Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SYNE3	161176	broad.mit.edu	37	14	95923642	95923642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:95923642C>T	ENST00000334258.5	-	4	675	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E221K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E221K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCCTCATGCTCCCGGGCCACC	0.622000													16	92					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9012794	9012794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:9012794C>T	ENST00000397910.4	-	34	38853	c.38650G>A	c.(38650-38652)Gag>Aag	p.E12884K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12886	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCGCTCCGTGGTGTTG	0.587000													20	55					0	0	0.00152264	0	0
TMEM168	64418	broad.mit.edu	37	7	112423923	112423923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:112423923G>A	ENST00000312814.5	-	2	1518	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	TMEM168_ENST00000454074.1_Missense_Mutation_p.H320Y	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	320						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATTTGGTATGGAATCCCCAA	0.348000													38	196					0	0	0.00128727	0	0
OR8J1	219477	broad.mit.edu	37	11	56127804	56127804	+	Missense_Mutation	SNP	T	T	C	rs149173319		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56127804T>C	ENST00000303039.3	+	1	114	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATTCCCCTCTTCCTGGTCTT	0.493000													15	119					0	0	0.000422831	0	0
PNKD	25953	broad.mit.edu	37	2	219204769	219204769	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219204769A>G	ENST00000273077.4	+	4	421	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.I100V|PNKD_ENST00000436005.2_Missense_Mutation_p.I64V	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	124						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGCTTCCCATCCCTGTCCT	0.647000													9	53					0	0	0.000673444	0	0
GRID2	2895	broad.mit.edu	37	4	94137889	94137889	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:94137889G>A	ENST00000282020.4	+	6	1048	c.789_splice	c.e6-1	p.E264_splice	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Splice_Site_p.E169_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	264					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E264K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TATCTTATAGGAAATAAACGA	0.368000													12	68					0	0	0.000978159	0	0
MST1L	11223	broad.mit.edu	37	1	17085078	17085078	+	RNA	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:17085078T>C	ENST00000455405.2	-	0	110																											AAACTGCACCTGGTCTGTAGG	0.612000													5	48					0	0	0.000673444	0	0
KLK15	55554	broad.mit.edu	37	19	51330157	51330157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:51330157G>A	ENST00000326856.4	-	4	584	c.455C>T	c.(454-456)aCc>aTc	p.T152I	KLK15_ENST00000301421.2_Missense_Mutation_p.T153I|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.T153I|KLK15_ENST00000596931.1_Missense_Mutation_p.T152I	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	153	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCTCCCAGCGGTCCCAGGCTC	0.692000													13	33					0	0	0.000308642	0	0
TSGA10	80705	broad.mit.edu	37	2	99695146	99695146	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:99695146G>A	ENST00000393483.3	-	12	1702	c.858C>T	c.(856-858)tcC>tcT	p.S286S	TSGA10_ENST00000539964.1_Silent_p.S286S|TSGA10_ENST00000355053.4_Silent_p.S286S|TSGA10_ENST00000542655.1_Silent_p.S286S|TSGA10_ENST00000410001.1_Silent_p.S286S|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	286					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTCTCCAAGGGATGCAATAT	0.348000													9	46					0	0	0.000274275	0	0
SPEF2	79925	broad.mit.edu	37	5	35814589	35814589	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35814589G>A	ENST00000356031.3	+	37	5557	c.5403G>A	c.(5401-5403)agG>agA	p.R1801R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.R598R	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1801					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCAAAGGAGTGAACATG	0.294000													17	55					0	0	0.000422831	0	0
KRT222	125113	broad.mit.edu	37	17	38813964	38813964	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:38813964T>A	ENST00000476049.1	-	4	526	c.485A>T	c.(484-486)aAg>aTg	p.K162M	KRT222_ENST00000394052.3_Missense_Mutation_p.K162M			Q8N1A0	KT222_HUMAN	keratin 222	162						intermediate filament	structural molecule activity	p.K162R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTGGTAGGCTTTTTGTCTTT	0.308000													14	98					0	0	0.000566183	0	0
GPR141	353345	broad.mit.edu	37	7	37780891	37780891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:37780891G>A	ENST00000447769.1	+	4	1185	c.896G>A	c.(895-897)tGg>tAg	p.W299*	GPR141_ENST00000334425.1_Nonsense_Mutation_p.W299*|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTGGCTTATGGAATTGTGTT	0.363000													8	69					0	0	0.000274275	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756564	94756564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:94756564G>A	ENST00000554723.1	-	2	905	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.Q123*|SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.Q123*|SERPINA10_ENST00000393096.1_Nonsense_Mutation_p.Q123*			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	123					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTTGATCTGGGTTTCAGTC	0.592000													12	50					0	0	0.00185496	0	0
COL11A1	1301	broad.mit.edu	37	1	103471428	103471428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:103471428C>T	ENST00000358392.2	-	18	2164	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G604E|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.G488E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G565E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	604	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCCGGAAGTCCATCAAACCC	0.363000													18	93					0	0	0.000958276	0	0
CARD11	84433	broad.mit.edu	37	7	2987361	2987361	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:2987361C>A	ENST00000396946.4	-	3	471	c.68G>T	c.(67-69)tGg>tTg	p.W23L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	23	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACATTCTCCCACAAGGCGTC	0.507000			Mis		DLBCL								6	162					0.00198382	0.00688624	0.00198382	1	0
LYPLA1	10434	broad.mit.edu	37	8	54965265	54965265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:54965265C>T	ENST00000316963.3	-	7	605	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	LYPLA1_ENST00000343231.6_Missense_Mutation_p.G122S|LYPLA1_ENST00000522007.1_Intron	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	138					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GCAGTGACACCTGCCAGTTTC	0.473000													14	55					0	0	0.000308642	0	0
OR10A7	121364	broad.mit.edu	37	12	55615074	55615074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55615074G>A	ENST00000326258.1	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTGTCCCCAAGGAAAATTATC	0.408000													27	151					0	0	0.00106085	0	0
TNNT3	7140	broad.mit.edu	37	11	1953709	1953709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:1953709C>T	ENST00000381558.1	+	8	391	c.112C>T	c.(112-114)Cct>Tct	p.P38S	TNNT3_ENST00000381579.3_Missense_Mutation_p.P38S|TNNT3_ENST00000360603.3_Missense_Mutation_p.P40S|TNNT3_ENST00000381561.4_Missense_Mutation_p.P49S|TNNT3_ENST00000446240.1_Missense_Mutation_p.P27S|TNNT3_ENST00000397301.1_Missense_Mutation_p.P57S|TNNT3_ENST00000278317.6_Missense_Mutation_p.P46S|TNNT3_ENST00000381589.3_Missense_Mutation_p.P44S|TNNT3_ENST00000397304.2_Missense_Mutation_p.P27S|TNNT3_ENST00000381549.3_Missense_Mutation_p.P38S|TNNT3_ENST00000381548.3_Missense_Mutation_p.P48S			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	57					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACTCACTGCTCCTAAGATCCC	0.582000													23	80					0	0	0.00106085	0	0
NR4A3	8013	broad.mit.edu	37	9	102590532	102590532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:102590532G>A	ENST00000330847.1	+	2	285	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NR4A3_ENST00000395097.2_Missense_Mutation_p.E70K|NR4A3_ENST00000338488.4_Missense_Mutation_p.E70K			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	70					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597000			T	EWSR1	extraskeletal myxoid chondrosarcoma								9	42					0	0	0.000673444	0	0
HTR1E	3354	broad.mit.edu	37	6	87726062	87726062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:87726062C>T	ENST00000305344.4	+	2	1713	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	HTR1E_ENST00000369584.1_Missense_Mutation_p.S337F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	337					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.S337Y(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATGTGAATTCTCTGATCAAC	0.438000													39	92					0	0	0.00128727	0	0
TTN	7273	broad.mit.edu	37	2	179474943	179474943	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179474943G>A	ENST00000589042.1	-	271	51534	c.51310C>T	c.(51310-51312)Ctg>Ttg	p.L17104L	TTN_ENST00000591111.1_Silent_p.L15463L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L8039L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L8164L|TTN_ENST00000342992.6_Silent_p.L14536L|TTN_ENST00000342175.6_Silent_p.L8231L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15463	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATGACAGTTTGTTCTCA	0.423000													52	205					0	0	0.000781405	0	0
EXOC1	55763	broad.mit.edu	37	4	56766022	56766022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:56766022C>T	ENST00000381295.2	+	17	2657	c.2309C>T	c.(2308-2310)tCt>tTt	p.S770F	EXOC1_ENST00000349598.6_Missense_Mutation_p.S755F|EXOC1_ENST00000346134.7_Missense_Mutation_p.S770F	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	770					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GTCATTTACTCTTTAGGACAA	0.303000													7	46					0	0	0.000442599	0	0
OR2B6	26212	broad.mit.edu	37	6	27925589	27925589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:27925589G>A	ENST00000244623.1	+	1	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGTGTTGAGACAACAGC	0.458000													34	117					0	0	0.0024448	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:56468689G>A	ENST00000288221.6	-	2	602	c.347C>T	c.(346-348)tCa>tTa	p.S116L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000													29	121					0	0	0.00127121	0	0
ASZ1	136991	broad.mit.edu	37	7	117060298	117060298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:117060298G>A	ENST00000284629.2	-	4	421	c.359C>T	c.(358-360)tCt>tTt	p.S120F		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	120					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCCATGAGCAGAACATGCAGT	0.373000													19	93					0	0	0.00121646	0	0
FRMPD2	143162	broad.mit.edu	37	10	49392647	49392647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:49392647G>A	ENST00000374201.3	-	20	2848	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	FRMPD2_ENST00000407470.4_Missense_Mutation_p.S817F|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S824F	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	849	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTTGTCAGGGGAATTCTGGAT	0.408000													12	59					0	0	0.00136819	0	0
PDGFD	80310	broad.mit.edu	37	11	103797714	103797714	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:103797714T>A	ENST00000302251.5	-	6	1346	c.895A>T	c.(895-897)Aat>Tat	p.N299Y	PDGFD_ENST00000393158.2_Missense_Mutation_p.N305Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	305					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGCCACAATTTCCTCCACAG	0.463000													7	32					0	0	0.00198382	0	0
LGR5	8549	broad.mit.edu	37	12	71978151	71978151	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:71978151C>T	ENST00000266674.5	+	18	2672	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	LGR5_ENST00000536515.1_Silent_p.F715F|LGR5_ENST00000540815.2_Silent_p.F763F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	787						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTGTCCTTCTCCTCTTTAA	0.433000													106	557					0	0	0.000781405	0	0
ADAM28	10863	broad.mit.edu	37	8	24193108	24193108	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:24193108G>A	ENST00000265769.4	+	14	1631	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	ADAM28_ENST00000540823.1_Silent_p.G274G|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G254G|ADAM28_ENST00000437154.2_Silent_p.G507G|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	507	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTGATGGGGACATGCCCCA	0.502000													7	18					0	0	0.000157383	0	0
LRRC49	54839	broad.mit.edu	37	15	71197007	71197007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:71197007C>T	ENST00000260382.5	+	5	673	c.413C>T	c.(412-414)tCg>tTg	p.S138L	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.S94L|LRRC49_ENST00000560369.1_Missense_Mutation_p.S143L|LRRC49_ENST00000544974.2_Missense_Mutation_p.S128L|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	138						cytoplasm|microtubule		p.S138L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGTTAATATCGTTGGATTTA	0.358000													18	112					0	0	0.000958276	0	0
NR1H3	10062	broad.mit.edu	37	11	47283430	47283430	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:47283430C>T	ENST00000481889.2	+	5	1074	c.906C>T	c.(904-906)agC>agT	p.S302S	NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000529540.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	198	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCAAGACCAGCCCTCCTAGTC	0.582000													28	116					0	0	0.00127121	0	0
KCNIP3	30818	broad.mit.edu	37	2	96048147	96048147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:96048147C>T	ENST00000295225.5	+	7	713	c.578C>T	c.(577-579)tCc>tTc	p.S193F	KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Missense_Mutation_p.S171F|KCNIP3_ENST00000468529.1_Missense_Mutation_p.S167F	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	193	EF-hand 3.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATCATGAAGTCCATCTATGAC	0.667000													11	46					0	0	0.000673444	0	0
DSEL	92126	broad.mit.edu	37	18	65179020	65179020	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:65179020G>A	ENST00000310045.7	-	2	4329	c.2856C>T	c.(2854-2856)ccC>ccT	p.P952P	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	942						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TACCCCTATTGGGTTCATGCA	0.393000													9	65					0	0	0.000978159	0	0
MET	4233	broad.mit.edu	37	7	116381018	116381018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:116381018G>A	ENST00000397752.3	+	5	1840	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	MET_ENST00000318493.6_Missense_Mutation_p.R547Q|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.R547Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAATGTGTGCGATCGGAGGAA	0.512000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				42	87					0	0	0.000680045	0	0
PAX1	5075	broad.mit.edu	37	20	21687451	21687451	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:21687451T>G	ENST00000398485.2	+	2	716	c.662T>G	c.(661-663)cTg>cGg	p.L221R	PAX1_ENST00000444366.2_Missense_Mutation_p.L197R|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	221	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCGCATCCTGCGCAACAAG	0.632000													6	39					0	0	0.000157383	0	0
GRIK1	2897	broad.mit.edu	37	21	30933998	30933998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:30933998G>A	ENST00000399914.1	-	14	2779	c.2258C>T	c.(2257-2259)aCt>aTt	p.T753I	GRIK1_ENST00000327783.4_Missense_Mutation_p.T768I|GRIK1_ENST00000399909.1_Missense_Mutation_p.T753I|GRIK1_ENST00000535441.1_Missense_Mutation_p.T770I|GRIK1_ENST00000389125.3_Missense_Mutation_p.T753I|GRIK1_ENST00000309434.7_Missense_Mutation_p.T770I|GRIK1_ENST00000399913.1_Missense_Mutation_p.T768I|GRIK1_ENST00000389124.2_Missense_Mutation_p.T768I|GRIK1_ENST00000399907.1_Missense_Mutation_p.T768I			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	768					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCCGATCTGAGTGAGGTTGCA	0.507000													12	67					0	0	0.00244969	0	0
USP29	57663	broad.mit.edu	37	19	57640963	57640963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:57640963C>T	ENST00000254181.4	+	4	1374	c.920C>T	c.(919-921)cCa>cTa	p.P307L	USP29_ENST00000598197.1_Missense_Mutation_p.P307L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	307					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTGCAATTCCATCTTTTGCT	0.438000													14	70					0	0	0.000308642	0	0
POLD1	5424	broad.mit.edu	37	19	50905494	50905494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:50905494C>T	ENST00000440232.2	+	6	675	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S	POLD1_ENST00000595904.1_Missense_Mutation_p.P208S|POLD1_ENST00000599857.1_Missense_Mutation_p.P208S	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	208					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCCCCTCCCCGTTCCTGCG	0.701000								DNA polymerases (catalytic subunits)					5	53					0	0	0.000602214	0	0
OR5D18	219438	broad.mit.edu	37	11	55587919	55587919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55587919G>A	ENST00000333976.4	+	1	834	c.814G>A	c.(814-816)Gtc>Atc	p.V272I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CAGGCACACAGTCAAAGTGGC	0.498000													9	53					0	0	0.000442599	0	0
EZR	7430	broad.mit.edu	37	6	159188497	159188497	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:159188497G>A	ENST00000367075.3	-	13	1560	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	EZR_ENST00000392177.4_Silent_p.H432H|EZR_ENST00000337147.7_Silent_p.H464H	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	464	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCATCACCAGGTGCAGCTCCT	0.587000			T	ROS1	NSCLC								10	56					0	0	0.000673444	0	0
PSG7	5676	broad.mit.edu	37	19	43430700	43430700	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:43430700C>T	ENST00000406070.2	-	0	974				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGAGGATCCTGTTTTCAAT	0.502000													51	86					0	0	0.000781405	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147431	1147431	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:1147431C>T	ENST00000379236.3	-	5	529	c.525G>A	c.(523-525)caG>caA	p.Q175Q	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	175					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTCCTGGGGCTGCGTGGCTG	0.687000													11	45					0	0	0.000978159	0	0
TFF1	7031	broad.mit.edu	37	21	43786599	43786599	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:43786599G>A	ENST00000291527.2	-	1	104	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	2					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						TCTCCATGGTGGCCATTGCCT	0.622000													5	26					0	0	0.00116845	0	0
ABCC12	94160	broad.mit.edu	37	16	48155664	48155664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:48155664C>T	ENST00000311303.3	-	11	2020	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ABCC12_ENST00000416054.1_Missense_Mutation_p.E559K|ABCC12_ENST00000448542.1_Missense_Mutation_p.E559K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	559	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGTATGTTTTCTCTCACATTT	0.428000													4	27					0	0	0.00024832	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	G	A	rs145122906		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:10399321G>A	ENST00000226207.5	-	35	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1705						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532000													13	61					0	0	0.000422831	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:152284394C>T	ENST00000368799.1	-	3	3003	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis				42	231					0	0	0.000781405	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116768	31116768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:31116768G>A	ENST00000261177.9	+	3	151	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TSPAN11_ENST00000544427.1_Missense_Mutation_p.G21E|TSPAN11_ENST00000546076.1_Missense_Mutation_p.G31E|TSPAN11_ENST00000535215.1_5'UTR	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGTCGGGGGAGCAGCCGTC	0.667000													8	35					0	0	0.000157383	0	0
PDGFD	80310	broad.mit.edu	37	11	103797715	103797715	+	Silent	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:103797715T>A	ENST00000302251.5	-	6	1345	c.894A>T	c.(892-894)ggA>ggT	p.G298G	PDGFD_ENST00000393158.2_Silent_p.G304G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	304					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGCCACAATTTCCTCCACAGC	0.463000													7	32					0	0	0.00198382	0	0
C2orf49	79074	broad.mit.edu	37	2	105956091	105956091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:105956091G>A	ENST00000258457.2	+	2	380	c.151G>A	c.(151-153)Gac>Aac	p.D51N	C2orf49_ENST00000437250.2_Missense_Mutation_p.D89N|C2orf49_ENST00000410049.1_Missense_Mutation_p.D51N			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	51						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CAGTCTTACTGACCTTTATGT	0.348000													9	59					0	0	0.000442599	0	0
DEFB119	245932	broad.mit.edu	37	20	29976901	29976901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:29976901C>T	ENST00000376315.2	-	2	193	c.194G>A	c.(193-195)gGa>gAa	p.G65E	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAAGGATTCCATGAATTGT	0.408000													9	66					0	0	0.000673444	0	0
COL6A6	131873	broad.mit.edu	37	3	130289734	130289734	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:130289734A>G	ENST00000358511.6	+	6	2505	c.2474A>G	c.(2473-2475)tAt>tGt	p.Y825C	COL6A6_ENST00000453409.2_Missense_Mutation_p.Y825C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	825	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATGATGAGTATAATATCATG	0.413000													19	48					0	0	0.000958276	0	0
CSMD1	64478	broad.mit.edu	37	8	2800057	2800057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:2800057G>A	ENST00000520002.1	-	70	11030	c.10475C>T	c.(10474-10476)gCc>gTc	p.A3492V	CSMD1_ENST00000542608.1_Missense_Mutation_p.A3314V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3491V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3315V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3315V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3492V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3492						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCAGAATGGCAGCCGCCAC	0.413000													5	17					0	0	0.000602214	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832930	24832930	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:24832930C>T	ENST00000376451.2	+	14	4040	c.3780C>T	c.(3778-3780)ttC>ttT	p.F1260F	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.F1577F|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1577					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATTCAAATTCCCTAAGAAGC	0.468000													21	94					0	0	0.00188189	0	0
EZH2	2146	broad.mit.edu	37	7	148526879	148526879	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:148526879T>A	ENST00000320356.2	-	5	546	c.425A>T	c.(424-426)gAt>gTt	p.D142V	EZH2_ENST00000478654.1_Missense_Mutation_p.D133V|EZH2_ENST00000476773.1_Missense_Mutation_p.D133V|EZH2_ENST00000541220.1_Missense_Mutation_p.D133V|EZH2_ENST00000460911.1_Missense_Mutation_p.D142V|EZH2_ENST00000350995.2_Missense_Mutation_p.D103V|EZH2_ENST00000536783.1_Missense_Mutation_p.D33V|EZH2_ENST00000483967.1_Missense_Mutation_p.D133V	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	142	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAAAGTACCATCCTGATCTAA	0.333000			Mis		DLBCL								23	40					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179432542	179432542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179432542G>A	ENST00000589042.1	-	326	78541	c.78317C>T	c.(78316-78318)aCt>aTt	p.T26106I	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T24465I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17041I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T17166I|TTN_ENST00000342992.6_Missense_Mutation_p.T23538I|TTN_ENST00000342175.6_Missense_Mutation_p.T17233I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24465	Ig-like 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTGTAAAGTGATTTCATT	0.433000													33	143					0	0	0.00178596	0	0
C1QL4	338761	broad.mit.edu	37	12	49726990	49726990	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:49726990G>A	ENST00000334221.3	-	2	1274	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	188	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TCTGGTCCGCGTCCTGAGCAA	0.642000													7	24					0	0	0.00198382	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956534	16956534	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:16956534C>T	ENST00000412962.1	-	0	294																											GACGGCGCCACGCAGGTGTTC	0.602000													5	17					0	0	0.000602214	0	0
DDX26B	203522	broad.mit.edu	37	X	134683699	134683699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:134683699C>T	ENST00000370752.4	+	7	1209	c.875C>T	c.(874-876)tCt>tTt	p.S292F	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	292										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCAGAATCTTTTTGGCCA	0.358000													42	186					0	0	0.000781405	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147328	95147328	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:95147328C>T	ENST00000354268.4	+	3	322	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SMARCAD1_ENST00000457823.2_Silent_p.F83F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	83					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TATCATATTTCAAAAATCAAA	0.323000													21	76					0	0	0.00121646	0	0
LILRA1	11024	broad.mit.edu	37	19	55106668	55106668	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:55106668C>T	ENST00000453777.1	+	5	632	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.F154F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	154	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTGGCAGCTTCATTCTGTGTA	0.572000													23	79					0	0	0.00229938	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705349	60705349	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:60705349C>T	ENST00000227880.3	-	7	1817	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	528					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CACCAAAGTCCTTGGGGCAGT	0.607000													5	33					0	0	0.00116845	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417258	89417258	+	RNA	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:89417258G>A	ENST00000490686.1	-	0	77																											CCTTACCTGGGAACCAGAGCA	0.507000													25	142					0	0	0.000720815	0	0
LZTR1	8216	broad.mit.edu	37	22	21348031	21348031	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:21348031C>T	ENST00000215739.8	+	12	1700	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.F428F	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	447	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.F447L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGTGGAGTTCGTGCTGGGTG	0.627000													5	20					0	0	0.00116845	0	0
LOXL4	84171	broad.mit.edu	37	10	100017840	100017840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:100017840C>T	ENST00000260702.3	-	7	1153	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	335	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TGGTCACAGACCGTGCCCCAC	0.682000													11	29					0	0	0.000673444	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000													8	43					0	0	0.000157383	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414693	85414693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:85414693G>A	ENST00000295886.4	-	3	1074	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	NKX6-1_ENST00000515820.2_Nonsense_Mutation_p.Q11*	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	285					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGGCGGTTCTGGAACCAGACC	0.617000													10	44					0	0	0.000978159	0	0
LRRC48	83450	broad.mit.edu	37	17	17896150	17896150	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:17896150G>A	ENST00000313838.8	+	7	895	c.516G>A	c.(514-516)gaG>gaA	p.E172E	LRRC48_ENST00000399187.1_Silent_p.E172E|LRRC48_ENST00000411504.2_Silent_p.E172E|LRRC48_ENST00000399182.1_Silent_p.E172E|LRRC48_ENST00000584166.1_Silent_p.E172E	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	172	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTGAGGCAGAGGATTACAAGA	0.542000													10	19					0	0	0.000673444	0	0
SUSD5	26032	broad.mit.edu	37	3	33216549	33216549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:33216549G>A	ENST00000309558.3	-	4	844	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	143	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AACGAAGGCGGGTCTCCACAC	0.537000													10	44					0	0	0.000978159	0	0
LRRC7	57554	broad.mit.edu	37	1	70493974	70493974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:70493974C>T	ENST00000310961.5	+	19	2234	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.P601S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	601						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAATTCAAATCCAACTGCTAA	0.408000													8	32					0	0	0.000157383	0	0
MKRN3	7681	broad.mit.edu	37	15	23811728	23811728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:23811728G>A	ENST00000314520.3	+	1	1275	c.799G>A	c.(799-801)Gac>Aac	p.D267N	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	267	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGACATATGCGACATGTGTGG	0.532000													8	52					0	0	0.000274275	0	0
SRRD	402055	broad.mit.edu	37	22	26887513	26887513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:26887513C>T	ENST00000215917.6	+	7	909	c.895C>T	c.(895-897)Cct>Tct	p.P299S	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	299					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCACTGGTTCCCTGTGCAAAA	0.418000													19	82					0	0	0.00074312	0	0
NETO1	81832	broad.mit.edu	37	18	70526084	70526084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:70526084G>A	ENST00000327305.6	-	4	1103	c.446C>T	c.(445-447)tCa>tTa	p.S149L	NETO1_ENST00000583169.1_Missense_Mutation_p.S149L|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.S148L|NETO1_ENST00000299430.2_Missense_Mutation_p.S148L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	149	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTATCGAGCTGAAAATCCCAT	0.328000													19	56					0	0	0.00188189	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43922289	43922289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:43922289T>A	ENST00000282406.4	+	6	538	c.428T>A	c.(427-429)tTg>tAg	p.L143*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	143						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGCTGGAATTGGAGAATCAG	0.259000													24	181					0	0	0.00047179	0	0
DPYD	1806	broad.mit.edu	37	1	97564144	97564144	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:97564144G>A	ENST00000370192.3	-	21	2767	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	889					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.I889I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTGCTATGATTTTCTTGC	0.373000													14	35					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179641337	179641337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179641337G>A	ENST00000589042.1	-	28	5478	c.5254C>T	c.(5254-5256)Cgt>Tgt	p.R1752C	TTN_ENST00000591111.1_Missense_Mutation_p.R1752C|TTN_ENST00000460472.2_Missense_Mutation_p.R1706C|TTN_ENST00000359218.5_Missense_Mutation_p.R1706C|TTN_ENST00000360870.5_Missense_Mutation_p.R1752C|TTN_ENST00000342992.6_Missense_Mutation_p.R1752C|TTN_ENST00000342175.6_Missense_Mutation_p.R1706C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCATACGGAGCCTGTTG	0.483000													16	45					0	0	0.000308642	0	0
ECE2	9718	broad.mit.edu	37	3	183994287	183994287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:183994287G>A	ENST00000404464.3	+	2	196	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	ECE2_ENST00000357474.5_Missense_Mutation_p.A20T|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTACAAACGGGCCACGCTTCG	0.667000													8	25					0	0	0.000442599	0	0
TLR2	7097	broad.mit.edu	37	4	154625275	154625275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:154625275G>A	ENST00000260010.6	+	1	2624	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	406					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GGAAAAAACCGGAGAGACTTT	0.373000													12	44					0	0	0.00185496	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186863340	186863340	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:186863340C>T	ENST00000367466.3	+	5	527	c.375C>T	c.(373-375)aaC>aaT	p.N125N	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Silent_p.N125N	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	125	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTATTTTCAACCAAGTAAGTA	0.333000													10	43					0	0	0.000673444	0	0
MUC17	140453	broad.mit.edu	37	7	100686452	100686452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100686452C>T	ENST00000306151.4	+	3	11819	c.11755C>T	c.(11755-11757)Cct>Tct	p.P3919S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3919						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACAATTCCTGTAGCCAC	0.493000													23	127					0	0	0.000878237	0	0
KCNB2	9312	broad.mit.edu	37	8	73848523	73848523	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:73848523C>T	ENST00000523207.1	+	3	1521	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	311					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCTCAGGATCCTGAAACTCG	0.517000													7	39					0	0	0.00198382	0	0
IFNA17	3451	broad.mit.edu	37	9	21227727	21227727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21227727C>T	ENST00000413767.2	-	1	494	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAGAGTGATTCTTTGGAAGTA	0.443000													53	142					0	0	0.000781405	0	0
RAB3IP	117177	broad.mit.edu	37	12	70178597	70178597	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:70178597T>C	ENST00000550536.1	+	4	1111		c.e4+2		RAB3IP_ENST00000378815.6_Splice_Site|RAB3IP_ENST00000362025.5_Splice_Site|RAB3IP_ENST00000247833.7_Splice_Site|RAB3IP_ENST00000553099.1_Splice_Site|RAB3IP_ENST00000325555.9_Splice_Site|RAB3IP_ENST00000551641.1_Splice_Site|RAB3IP_ENST00000483530.2_Splice_Site	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTATTTGAGGTTGGTCTATTT	0.353000													7	45					0	0	0.00198382	0	0
OR52R1	119695	broad.mit.edu	37	11	4825218	4825218	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:4825218G>A	ENST00000380382.1	-	1	629	c.630C>T	c.(628-630)ttC>ttT	p.F210F	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.F131F|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCGGAGTGGGAAGCAGATAG	0.567000													12	42					0	0	0.000978159	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246982	89246982	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:89246982C>T	ENST00000496168.1	-	0	368																											AGGGGCTTTCCCTGGTTTCTG	0.527000													24	62					0	0	0.00106085	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158418	193158418	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:193158418G>A	ENST00000342695.4	-	21	2770	c.2448C>T	c.(2446-2448)atC>atT	p.I816I	ATP13A4_ENST00000392443.3_Silent_p.I797I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	816					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGTCCCATTGATCAATATCT	0.408000													17	74					0	0	0.00121646	0	0
ANK3	288	broad.mit.edu	37	10	61830498	61830498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61830498C>T	ENST00000280772.1	-	37	10332	c.10141G>A	c.(10141-10143)Gaa>Aaa	p.E3381K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3381					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGCAATTTCATTCTGAGGT	0.458000													18	97					0	0	0.000958276	0	0
COL12A1	1303	broad.mit.edu	37	6	75836118	75836118	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:75836118C>A	ENST00000322507.8	-	39	6718	c.6409G>T	c.(6409-6411)Gat>Tat	p.D2137Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2137Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2137Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D973Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2137	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTGAAGGATCCCAGGACACC	0.423000													14	42					3.27435e-08	1.1466e-07	0.00244969	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953687	161953687	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:161953687G>A	ENST00000294794.3	-	8	2454	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	OLFML2B_ENST00000367940.2_Silent_p.F678F|OLFML2B_ENST00000367938.1_Silent_p.F160F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	677	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CACAGATGACGAAGCAGTTGC	0.567000													12	65					0	0	0.00136819	0	0
DSCAM	1826	broad.mit.edu	37	21	41668096	41668096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:41668096G>A	ENST00000400454.1	-	10	2545	c.2068C>T	c.(2068-2070)Ccc>Tcc	p.P690S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	690	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAACTTGGGAGGAACTGAA	0.413000													13	65					0	0	0.000422831	0	0
MAP2K4	6416	broad.mit.edu	37	17	11998934	11998934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:11998934C>T	ENST00000415385.3	+	5	522	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F	MAP2K4_ENST00000353533.5_Missense_Mutation_p.L146F			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	146	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AAAACAACTTCTTATGGATTT	0.353000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								16	60					0	0	0.000566183	0	0
SCN4A	6329	broad.mit.edu	37	17	62018367	62018367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:62018367C>T	ENST00000578147.1	-	24	5351	c.5275G>A	c.(5275-5277)Gac>Aac	p.D1759N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1759N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1759					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCGCTGCCGTCGTGGCTGTGG	0.627000													16	60					0	0	0.00074312	0	0
DNAL4	10126	broad.mit.edu	37	22	39178680	39178680	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:39178680G>A	ENST00000216068.4	-	2	301	c.57C>T	c.(55-57)ttC>ttT	p.F19F	DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Silent_p.F19F	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	19					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGACCAGAGGGAAGGTCTGCA	0.592000													10	47					0	0	0.000978159	0	0
RBM25	58517	broad.mit.edu	37	14	73538437	73538437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:73538437C>T	ENST00000261973.7	+	2	373	c.88C>T	c.(88-90)Cct>Tct	p.P30S	RBM25_ENST00000527432.1_Missense_Mutation_p.P30S|RBM25_ENST00000540173.1_Missense_Mutation_p.P30S|RBM25_ENST00000525321.1_Missense_Mutation_p.P30S|RBM25_ENST00000526754.1_Missense_Mutation_p.P30S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	30					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCAGGATTTCCTCCACCTGT	0.448000													6	54					0	0	0.00198382	0	0
SRPK3	26576	broad.mit.edu	37	X	153049256	153049256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:153049256G>A	ENST00000489426.1	+	15	3391	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	SRPK3_ENST00000370100.1_Missense_Mutation_p.R232Q|SRPK3_ENST00000370101.3_Missense_Mutation_p.R275Q|SRPK3_ENST00000370108.3_Missense_Mutation_p.R274Q|SRPK3_ENST00000393786.3_Missense_Mutation_p.R274Q|SRPK3_ENST00000370104.1_Missense_Mutation_p.R274Q			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	275	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCAAACGGAAACAGCAG	0.642000													5	15					0	0	0.00116845	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170741	47170741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:47170741C>T	ENST00000447411.1	-	12	1326	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G374R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	374					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCATCCCCGTGATGGAA	0.403000													20	76					0	0	0.00188189	0	0
TLR2	7097	broad.mit.edu	37	4	154625162	154625162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:154625162G>A	ENST00000260010.6	+	1	2511	c.1103G>A	c.(1102-1104)aGt>aAt	p.S368N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	368					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGATCTCAGTGAAAATTTG	0.328000													11	33					0	0	0.000673444	0	0
XKR4	114786	broad.mit.edu	37	8	56436719	56436719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:56436719C>T	ENST00000327381.5	+	3	1986	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	629						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCCCATCTCCTCCAAGGCTG	0.458000													15	64					0	0	0.000422831	0	0
NKX3-1	4824	broad.mit.edu	37	8	23539056	23539056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:23539056C>T	ENST00000380871.4	-	2	420	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	NKX3-1_ENST00000523261.1_Missense_Mutation_p.R53Q	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	128					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAAGGCAGCTCGGGAGCGCTT	0.582000													23	123					0	0	0.00278032	0	0
EPG5	57724	broad.mit.edu	37	18	43526684	43526684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:43526684G>A	ENST00000282041.5	-	7	1656	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	541					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCCTGAGGAGGATGGCTTCCG	0.473000													14	92					0	0	0.00121646	0	0
KLK13	26085	broad.mit.edu	37	19	51559967	51559967	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:51559967G>A	ENST00000595793.1	-	5	753	c.711C>T	c.(709-711)ttC>ttT	p.F237F	KLK13_ENST00000335422.3_Silent_p.F85F|KLK13_ENST00000595547.1_Silent_p.F164F	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	237	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCCCACATGGGAAGTCTCCCC	0.542000													32	99					0	0	0.00178596	0	0
SGCZ	137868	broad.mit.edu	37	8	13959909	13959909	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:13959909G>A	ENST00000382080.1	-	7	1435	c.720C>T	c.(718-720)ctC>ctT	p.L240L	SGCZ_ENST00000421524.2_Silent_p.L193L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	227					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGCAGATGGAGCTCCTTCC	0.517000													12	66					0	0	0.00136819	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002716	57002716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57002716C>T	ENST00000371250.3	-	2	759	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	70					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGCTCTCATCATTGCAGTAA	0.527000													20	78					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9070360	9070360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:9070360C>T	ENST00000397910.4	-	3	17289	c.17086G>A	c.(17086-17088)Gag>Aag	p.E5696K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5698	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGTCTCTCCTGTGTGGGG	0.502000													8	29					0	0	0.000673444	0	0
CCBL1	883	broad.mit.edu	37	9	131600353	131600353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:131600353G>A	ENST00000436267.2	-	7	846	c.697C>T	c.(697-699)Cct>Tct	p.P233S	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P89S|CCBL1_ENST00000302586.3_Missense_Mutation_p.P139S			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	139					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	ACAAACACAGGACGACCCCCT	0.532000													29	90					0	0	0.00283554	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													7	20					0	0	0.000157383	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210286	3210286	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:3210286G>A	ENST00000380059.3	-	14	1856	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.A542A|SLC4A11_ENST00000380056.3_Silent_p.A558A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	558	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGTGGGGCTGGCGAGGAAGC	0.647000													9	35					0	0	0.000673444	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:99474422G>A	ENST00000316368.2	-	1	258	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478000													21	71					0	0	0.000586117	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307607	46307607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:46307607G>A	ENST00000221538.3	-	3	1698	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	RSPH6A_ENST00000600188.1_Missense_Mutation_p.S255F|RSPH6A_ENST00000597055.1_Missense_Mutation_p.S519F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	519	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCCTCGTAGGAGTCGCGCCC	0.657000													7	36					0	0	0.000157383	0	0
CD163L1	283316	broad.mit.edu	37	12	7556307	7556307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:7556307C>T	ENST00000313599.3	-	6	1289	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G421E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G411E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	411	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAACGGACATCCTAGCTGCTT	0.453000													19	118					0	0	0.00121646	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33596537	33596537	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:33596537C>A	ENST00000252015.2	-	13	1614	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D470Y|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.D501Y|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D111Y			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	509					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTCTTCCCATCACACACCAAA	0.522000													23	77					2.70639e-06	9.46048e-06	0.00229938	1	0
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483000													24	94					0	0	0.000878237	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732723	128732723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:128732723G>A	ENST00000296464.3	+	12	1921	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	HSPA4L_ENST00000508776.1_Missense_Mutation_p.E504K|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E535K|HSPA4L_ENST00000505726.1_Missense_Mutation_p.E478K	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	504					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAAAATTTGGAAGGCGATCA	0.363000													7	36					0	0	0.00198382	0	0
NRXN3	9369	broad.mit.edu	37	14	79433606	79433606	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:79433606A>C	ENST00000554719.1	+	10	2205	c.1714A>C	c.(1714-1716)Agt>Cgt	p.S572R	NRXN3_ENST00000335750.5_Missense_Mutation_p.S572R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	164					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAAGGCAACAGTGACCGCCC	0.433000													9	19					0	0	0.000978159	0	0
SEC1P	653677	broad.mit.edu	37	19	49183512	49183512	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49183512C>T	ENST00000430145.2	+	0	599					NR_004401.2																						GTACGCCACGCTGTACGCCCT	0.667000													4	9					0	0	0.00024832	0	0
FUT1	2523	broad.mit.edu	37	19	49254041	49254041	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49254041G>A	ENST00000310160.3	-	4	1472	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	166					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGCAGGGGAAGCCAGAGAGCT	0.602000													42	150					0	0	0.00195071	0	0
FNDC1	84624	broad.mit.edu	37	6	159642639	159642639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:159642639C>T	ENST00000297267.9	+	6	877	c.677C>T	c.(676-678)tCc>tTc	p.S226F	FNDC1_ENST00000340366.6_Missense_Mutation_p.S226F|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	226	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCTCGGAATCCGTGTATGTG	0.547000													7	39					0	0	0.00198382	0	0
DCC	1630	broad.mit.edu	37	18	50912421	50912421	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:50912421T>C	ENST00000442544.2	+	16	2984	c.2368T>C	c.(2368-2370)Tcc>Ccc	p.S790P	DCC_ENST00000581580.1_Missense_Mutation_p.S445P|DCC_ENST00000412726.1_Missense_Mutation_p.S638P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	790	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAGTCAAGTTCCCATTATGT	0.348000													10	57					0	0	0.00136819	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692375	4692375	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4692375C>T	ENST00000331264.7	+	1	122	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TCGCTATCTTCGCGCTGCTGC	0.657000													4	24					0	0	0.00116845	0	0
FAM83B	222584	broad.mit.edu	37	6	54735446	54735446	+	Silent	SNP	G	G	A	rs150957238		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:54735446G>A	ENST00000306858.7	+	2	518	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	134										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATCTACTTACGATAAAAGAAA	0.373000													15	53					0	0	0.000566183	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460968	70460968	+	Splice_Site	SNP	C	C	T	rs139337193		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:70460968C>T	ENST00000503640.1	-	4	1052		c.e4-1		UGT2A1_ENST00000286604.4_Splice_Site|UGT2A1_ENST00000514019.1_Splice_Site|UGT2A1_ENST00000502343.1_Splice_Site|UGT2A1_ENST00000512704.1_Splice_Site|UGT2A2_ENST00000457664.2_Splice_Site	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCATAAAACCTGTGGAAAAT	0.373000													6	52					0	0	0.000157383	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722547	129722547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:129722547C>T	ENST00000281441.3	+	2	258	c.170C>T	c.(169-171)tCc>tTc	p.S57F	TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57F	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468000													13	69					0	0	0.000422831	0	0
LAMB4	22798	broad.mit.edu	37	7	107696330	107696330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:107696330C>T	ENST00000388781.3	-	25	3585	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E1168K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E1168K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1168	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGGGAATTCCTGGCTGTGT	0.562000													6	82					0	0	0.000157383	0	0
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:132002709C>T	ENST00000286355.5	-	2	3132	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R347H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522000										HNSCC(32;0.087)			32	138					0	0	0.000814825	0	0
POTEC	388468	broad.mit.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs45626231		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:14543063A>C	ENST00000358970.5	-	1	82	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547000													6	64					0	0	0.000157383	0	0
P4HA2	8974	broad.mit.edu	37	5	131530617	131530617	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:131530617A>C	ENST00000401867.1	-	15	2106		c.e15+1		P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000379100.2_Splice_Site|P4HA2_ENST00000360568.3_Splice_Site			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II							endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAAGACACTCACCCCACTTGC	0.547000													9	42					0	0	0.00136819	0	0
ITGB4	3691	broad.mit.edu	37	17	73720797	73720797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:73720797G>A	ENST00000200181.3	+	2	201	c.14G>A	c.(13-15)cGc>cAc	p.R5H	ITGB4_ENST00000339591.3_Missense_Mutation_p.R5H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R5H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R5H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R5H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	5					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGGCCACGCCCCAGCCCA	0.642000													16	47					0	0	0.000958276	0	0
SNX19	399979	broad.mit.edu	37	11	130775851	130775851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:130775851G>A	ENST00000265909.4	-	7	3009	c.2440C>T	c.(2440-2442)Cca>Tca	p.P814S	SNX19_ENST00000533214.1_Missense_Mutation_p.P797S|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.P257S|SNX19_ENST00000534726.1_Missense_Mutation_p.P54S|SNX19_ENST00000530356.1_Missense_Mutation_p.P194S|SNX19_ENST00000528555.1_Missense_Mutation_p.P194S|SNX19_ENST00000545537.1_Missense_Mutation_p.P54S	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	814					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CACTCACCTGGATCGCTGTTG	0.542000													13	37					0	0	0.00074312	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539182	86539182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:86539182C>T	ENST00000450689.2	-	16	2490	c.2305G>A	c.(2305-2307)Ggt>Agt	p.G769S	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G529S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G602S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G698S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	769						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCTCGGAAACCCTTACTTTCA	0.373000													27	95					0	0	0.00127121	0	0
POTEE	445582	broad.mit.edu	37	2	131976345	131976345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:131976345G>A	ENST00000356920.5	+	1	464	c.370G>A	c.(370-372)Gat>Aat	p.D124N	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.D124N	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	124							ATP binding										GGGAGACTACGATGACAGCGC	0.587000													11	90					0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13735349	13735349	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:13735349G>A	ENST00000265104.4	-	68	11756	c.11652C>T	c.(11650-11652)gcC>gcT	p.A3884A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3884					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGCCCTCGGGCAGCATACT	0.448000									Kartagener syndrome				23	47					0	0	0.00229938	0	0
SYT17	51760	broad.mit.edu	37	16	19195343	19195343	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:19195343C>T	ENST00000562034.1	+	3	4440	c.642C>T	c.(640-642)ctC>ctT	p.L214L	SYT17_ENST00000355377.2_Silent_p.L275L|SYT17_ENST00000568115.1_Silent_p.L214L|SYT17_ENST00000562711.2_Silent_p.L271L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	275	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGACCCTGCTCCTGACCGTGG	0.567000													26	102					0	0	0.000720815	0	0
PASK	23178	broad.mit.edu	37	2	242046123	242046123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:242046123G>A	ENST00000405260.1	-	18	4528	c.3830C>T	c.(3829-3831)tCc>tTc	p.S1277F	PASK_ENST00000539818.1_Missense_Mutation_p.S1061F|PASK_ENST00000544142.1_Missense_Mutation_p.S1091F|PASK_ENST00000358649.4_Missense_Mutation_p.S1284F|PASK_ENST00000234040.4_Missense_Mutation_p.S1277F	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1277					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCGCAGCGGACAGAACTCC	0.512000													11	52					0	0	0.00136819	0	0
PRB2	653247	broad.mit.edu	37	12	11546614	11546614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:11546614G>A	ENST00000389362.4	-	3	433	c.398C>T	c.(397-399)cCa>cTa	p.P133L	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGAGGACCTTG	0.612000													58	278					0	0	0.000781405	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229893	8229893	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:8229893C>T	ENST00000539824.1	+	12	2618	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	SH3TC1_ENST00000245105.3_Silent_p.I824I			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	824							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCGTGCCATCGTGGACCACC	0.662000													7	21					0	0	0.00198382	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578693	141578693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:141578693G>A	ENST00000442267.2	-	12	2269	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	732						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCCCAAAACGGTCATGGCCTC	0.418000													40	185					0	0	0.000781405	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170427	90170427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:90170427G>A	ENST00000333209.3	-	2	1353	c.835C>T	c.(835-837)Cca>Tca	p.P279S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	279										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTGGACCTGGGGGACATGCC	0.557000													17	110					0	0	0.00121646	0	0
TNR	7143	broad.mit.edu	37	1	175293520	175293520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:175293520C>T	ENST00000367674.1	-	22	4637	c.3929G>A	c.(3928-3930)gGg>gAg	p.G1310E	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1310E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1310	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCGTACTTCCCATTGAGGTT	0.502000													5	37					0	0	0.00116845	0	0
FANCM	57697	broad.mit.edu	37	14	45645534	45645534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:45645534C>T	ENST00000267430.5	+	14	3662	c.3577C>T	c.(3577-3579)Caa>Taa	p.Q1193*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q1167*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1193					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACTCCAAGATCAAATCACCCG	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	51					0	0	0.000274275	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054220	160054220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:160054220G>A	ENST00000368088.3	+	2	642	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	134					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	p.E134K(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGTGCCCCGAGGGCATCGT	0.627000													8	30					0	0	0.000157383	0	0
ADH1A	124	broad.mit.edu	37	4	100201307	100201307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:100201307G>A	ENST00000209668.2	-	7	1071	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	320					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ATACCACCAAGAATAGCTCCC	0.453000													45	151					0	0	0.000781405	0	0
CD86	942	broad.mit.edu	37	3	121825261	121825261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:121825261C>T	ENST00000330540.2	+	4	733	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.S94L|CD86_ENST00000393627.2_Missense_Mutation_p.S200L|CD86_ENST00000469710.1_Missense_Mutation_p.S124L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	206	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTGTCTGTTTCATTCCCTGAT	0.393000													23	126					0	0	0.00047179	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853749	51853749	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:51853749C>T	ENST00000453097.2	+	8	1087	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC4A8_ENST00000358657.3_Silent_p.F317F|SLC4A8_ENST00000394856.1_Silent_p.F237F|SLC4A8_ENST00000535225.2_Silent_p.F237F|SLC4A8_ENST00000514353.3_Silent_p.F237F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	290					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F290F(2)|p.F237F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTCATTTCATGAAAAAAA	0.408000													41	147					0	0	0.00170553	0	0
LOC440040	440040	broad.mit.edu	37	11	49831733	49831733	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:49831733C>T	ENST00000527477.1	+	0	1958																											CTATATACACCATCCCTAATT	0.433000													33	182					0	0	0.00111076	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797515	44797515	+	Silent	SNP	C	C	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:44797515C>G	ENST00000309315.4	+	6	744	c.621C>G	c.(619-621)ccC>ccG	p.P207P	ZMIZ2_ENST00000441627.1_Silent_p.P207P|ZMIZ2_ENST00000433667.1_Silent_p.P175P|ZMIZ2_ENST00000413916.1_Silent_p.P175P|ZMIZ2_ENST00000265346.7_Silent_p.P207P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	207	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGTCCCCGCTGGCATGA	0.587000													13	68					0	0	0.00185496	0	0
MAML1	9794	broad.mit.edu	37	5	179201702	179201702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:179201702C>T	ENST00000292599.3	+	5	3138	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	959					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACTGCACCCAGGCCTACCC	0.692000													9	45					0	0	0.000274275	0	0
DNMT1	1786	broad.mit.edu	37	19	10265584	10265584	+	Silent	SNP	G	G	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:10265584G>T	ENST00000340748.4	-	19	1828	c.1593C>A	c.(1591-1593)atC>atA	p.I531I	DNMT1_ENST00000359526.4_Silent_p.I547I|DNMT1_ENST00000540357.1_Silent_p.I531I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	531	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTCTTACCTCGATCTTGTTGA	0.493000													12	40					5.50884e-06	1.92229e-05	0.00136819	1	0
RGS8	85397	broad.mit.edu	37	1	182635130	182635130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:182635130G>A	ENST00000483095.2	-	5	424	c.167C>T	c.(166-168)tCc>tTc	p.S56F	RGS8_ENST00000367557.4_Missense_Mutation_p.S56F|RGS8_ENST00000367556.1_Missense_Mutation_p.S56F|RGS8_ENST00000258302.4_Missense_Mutation_p.S74F|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	56	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACATCAAAGGAATCTGCCCA	0.403000													32	138					0	0	0.0024448	0	0
VRTN	55237	broad.mit.edu	37	14	74825059	74825059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74825059C>T	ENST00000256362.4	+	2	1814	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	525					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGGGCATCTCCCTTTCTGCCG	0.662000													30	106					0	0	0.0024448	0	0
ZNF615	284370	broad.mit.edu	37	19	52496214	52496214	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:52496214C>T	ENST00000602063.1	-	6	2464	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	ZNF615_ENST00000391795.3_Silent_p.E710E|ZNF615_ENST00000376716.5_Silent_p.E705E|ZNF615_ENST00000598071.1_Silent_p.E716E|ZNF615_ENST00000594083.1_Silent_p.E716E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATAGGGCCTCTCTCCTGTAT	0.438000													39	115					0	0	0.00148497	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972599	92972599	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:92972599G>C	ENST00000523629.1	-	12	2140	c.1686C>G	c.(1684-1686)gaC>gaG	p.D562E	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D535E|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D535E|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D525E|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D573E|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D525E|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D562E|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D525E	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	562					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGCAGGTGTGTCTCCCTGCT	0.617000													4	22					0	0	0.00024832	0	0
MUC17	140453	broad.mit.edu	37	7	100675922	100675922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100675922G>A	ENST00000306151.4	+	3	1289	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	409	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.463000													83	173					0	0	0.000781405	0	0
SOX5	6660	broad.mit.edu	37	12	23793772	23793772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:23793772G>A	ENST00000546136.1	-	7	954	c.952C>T	c.(952-954)Cca>Tca	p.P318S	SOX5_ENST00000381381.2_Missense_Mutation_p.P318S|SOX5_ENST00000541536.1_Missense_Mutation_p.P318S|SOX5_ENST00000537393.1_Missense_Mutation_p.P296S|SOX5_ENST00000309359.1_Missense_Mutation_p.P318S|SOX5_ENST00000451604.2_Missense_Mutation_p.P331S|SOX5_ENST00000545921.1_Missense_Mutation_p.P321S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	331					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTAAGCCTGGTGTTGCTGCG	0.453000													26	108					0	0	0.00209593	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137540	63137540	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:63137540G>A	ENST00000279178.3	+	1	261	c.12G>A	c.(10-12)caG>caA	p.Q4Q	SLC22A9_ENST00000310969.4_Silent_p.Q4Q	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	4					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGCCTTTCAGGACCTCCTGG	0.443000													26	72					0	0	0.000878237	0	0
KIF1C	10749	broad.mit.edu	37	17	4923917	4923917	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4923917C>T	ENST00000320785.5	+	20	2238	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	627					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGAACTTTGCCCAGAAGGAAC	0.622000													4	44					0	0	0.00024832	0	0
ERBB4	2066	broad.mit.edu	37	2	212566814	212566814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:212566814C>T	ENST00000342788.4	-	12	1677	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	ERBB4_ENST00000402597.1_Missense_Mutation_p.G456E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G456E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	456					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATAGATGTTTCCTGCGCTGAT	0.453000										TSP Lung(8;0.080)			12	95					0	0	0.000978159	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56757303G>A	ENST00000326855.2	+	1	957	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000													9	17					0	0	0.000274275	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751469	140751469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:140751469C>T	ENST00000576222.1	+	1	1639	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGTCGTCCTACGTGTCC	0.652000													10	46					0	0	0.000673444	0	0
OR8S1	341568	broad.mit.edu	37	12	48920222	48920222	+	Silent	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:48920222T>C	ENST00000310194.1	+	1	808	c.808T>C	c.(808-810)Ttg>Ctg	p.L270L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CCCCATAGAGTTGATCTTCTC	0.478000													22	75					0	0	0.00229938	0	0
TDG	6996	broad.mit.edu	37	12	104373736	104373736	+	Silent	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:104373736T>C	ENST00000392872.3	+	3	528	c.294T>C	c.(292-294)atT>atC	p.I98I	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Silent_p.I94I	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	98					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAGAAAAAATTACAGACACAT	0.358000								Base excision repair (BER), DNA glycosylases					4	70					0	0	0.00024832	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965499	35965499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35965499G>A	ENST00000274278.3	-	4	1189	c.832C>T	c.(832-834)Cca>Tca	p.P278S	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P224S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P278S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P244S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	278						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGTACTGGTTTAATAGGT	0.468000													9	65					0	0	0.000978159	0	0
HECTD2	143279	broad.mit.edu	37	10	93185065	93185065	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:93185065A>G	ENST00000446394.1	+	2	266	c.166A>G	c.(166-168)Att>Gtt	p.I56V	HECTD2_ENST00000371681.4_Missense_Mutation_p.I56V|HECTD2_ENST00000298068.5_Missense_Mutation_p.I56V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	56					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CAAAGGCCAAATTTCCACTTT	0.368000													10	37					0	0	0.000978159	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599813	136599813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:136599813C>T	ENST00000531224.1	-	4	458	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R67Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R69Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R67Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R69Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R67Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATAAGGTCGTCTCATTCC	0.433000													7	87					0	0	0.000157383	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175496	207175496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:207175496C>T	ENST00000374423.3	+	5	6630	c.6244C>T	c.(6244-6246)Cat>Tat	p.H2082Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2082							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGTTAAAATTCATTTTAATAG	0.418000													8	34					0	0	0.000274275	0	0
HHIP	64399	broad.mit.edu	37	4	145629453	145629453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:145629453G>A	ENST00000296575.3	+	7	1946	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	431						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGGCTCCACGATCCAGGCAG	0.517000													8	44					0	0	0.000442599	0	0
SCN9A	6335	broad.mit.edu	37	2	167056155	167056155	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:167056155T>C	ENST00000375387.4	-	27	5337	c.4997A>G	c.(4996-4998)aAc>aGc	p.N1666S	SCN9A_ENST00000303354.6_Missense_Mutation_p.N1666S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.N1654S|SCN9A_ENST00000409435.1_Missense_Mutation_p.N1665S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1665						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAGGCAAAGTTGGACATTCC	0.423000													33	111					0	0	0.00283554	0	0
ABCB1	5243	broad.mit.edu	37	7	87135295	87135295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:87135295G>A	ENST00000265724.3	-	28	3971	c.3554C>T	c.(3553-3555)gCc>gTc	p.A1185V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.A1121V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1185	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACGAGCTATGGCAATGCGTTG	0.403000													16	84					0	0	0.00074312	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006367	32006367	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:32006367C>T	ENST00000418967.2	+	1	326	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CYP21A2_ENST00000435122.2_Silent_p.F56F	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	55			G -> R (in AH3; loss of activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CTCAGAAATTCGGGCCCATCT	0.642000													18	35					0	0	0.00121646	0	0
XIRP2	129446	broad.mit.edu	37	2	168102636	168102636	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:168102636G>A	ENST00000409195.1	+	9	4823	c.4734G>A	c.(4732-4734)ggG>ggA	p.G1578G	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G1356G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G1578G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1403					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAAATAGGGGATGTTCGAA	0.373000													4	40					0	0	0.000602214	0	0
XIRP2	129446	broad.mit.edu	37	2	168105419	168105419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:168105419G>A	ENST00000409195.1	+	9	7606	c.7517G>A	c.(7516-7518)gGa>gAa	p.G2506E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2284E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2506E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGTTCCAGGAACTTCAGCA	0.378000													17	79					0	0	0.00074312	0	0
CDH17	1015	broad.mit.edu	37	8	95178106	95178106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:95178106G>A	ENST00000027335.3	-	10	1289	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	CDH17_ENST00000441892.2_Missense_Mutation_p.P175S|CDH17_ENST00000450165.2_Missense_Mutation_p.P389S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	389	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCATCCATGGGAAGTTTGGGA	0.423000													15	63					0	0	0.00244969	0	0
FCRL6	343413	broad.mit.edu	37	1	159778843	159778843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:159778843C>T	ENST00000321935.6	+	5	519	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.P138S|FCRL6_ENST00000339348.5_Missense_Mutation_p.P138S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	138	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAAGCTGCACCCCCTGAGGTC	0.617000													9	47					0	0	0.000673444	0	0
GPR111	222611	broad.mit.edu	37	6	47649017	47649017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:47649017C>T	ENST00000398742.2	+	5	567	c.518C>T	c.(517-519)gCc>gTc	p.A173V	GPR111_ENST00000507065.1_Missense_Mutation_p.A173V|GPR111_ENST00000296862.1_Missense_Mutation_p.A241V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	241					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGCACCATAGCCAACCACATT	0.438000													12	59					0	0	0.000978159	0	0
TRO	7216	broad.mit.edu	37	X	54956860	54956860	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:54956860A>C	ENST00000173898.7	+	12	3815	c.3703A>C	c.(3703-3705)Aca>Cca	p.T1235P	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T766P|TRO_ENST00000375041.2_Missense_Mutation_p.T838P|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1235	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCCTAAGCACAAGTTCTGG	0.587000													16	54					0	0	0.000566183	0	0
STON2	85439	broad.mit.edu	37	14	81737163	81737163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:81737163C>T	ENST00000555447.1	-	7	2876	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	STON2_ENST00000267540.2_Missense_Mutation_p.E822K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	822	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAAGGCACTTCCCGGTCAGAG	0.478000													13	59					0	0	0.00244969	0	0
GRM6	2916	broad.mit.edu	37	5	178409990	178409990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:178409990C>T	ENST00000231188.5	-	9	2535	c.2357G>A	c.(2356-2358)gGc>gAc	p.G786D	GRM6_ENST00000517717.1_Missense_Mutation_p.G786D|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	786					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CATGGTGAAGCCGATGGGCTT	0.597000													7	59					0	0	0.00198382	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:18955621G>A	ENST00000302797.3	-	1	935	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	237					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAAAAATAGGAAAAACTGAA	0.488000													5	48					0	0	0.000602214	0	0
PCDH17	27253	broad.mit.edu	37	13	58208594	58208594	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:58208594C>T	ENST00000377918.3	+	1	1940	c.1914C>T	c.(1912-1914)atC>atT	p.I638I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	638	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGTTTGAGATCGACCCGTCCA	0.642000													17	95					0	0	0.000958276	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													20	101					0	0	0.00188189	0	0
CLVS2	134829	broad.mit.edu	37	6	123318999	123318999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:123318999C>T	ENST00000275162.4	+	2	1412	c.77C>T	c.(76-78)aCg>aTg	p.T26M	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	26					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.T26K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AACCCAGACACGCTGCACCAG	0.547000													7	32					0	0	0.00198382	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:70980858C>T	ENST00000334414.6	-	9	2284	c.2240G>A	c.(2239-2241)cGa>cAa	p.R747Q	PTPRB_ENST00000538708.1_Missense_Mutation_p.R529Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R439Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373000													15	66					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179472548	179472548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179472548C>T	ENST00000589042.1	-	276	53190	c.52966G>A	c.(52966-52968)Gga>Aga	p.G17656R	TTN_ENST00000591111.1_Missense_Mutation_p.G16015R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8591R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8716R|TTN_ENST00000342992.6_Missense_Mutation_p.G15088R|TTN_ENST00000342175.6_Missense_Mutation_p.G8783R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16015	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTTTCTCCAGGCGGTCCT	0.433000													18	70					0	0	0.00152264	0	0
TROAP	10024	broad.mit.edu	37	12	49720992	49720992	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:49720992C>T	ENST00000551245.1	+	8	881	c.769_splice	c.e8-1	p.A257_splice	TROAP_ENST00000257909.3_Splice_Site_p.A257_splice|TROAP_ENST00000547923.1_5'UTR			Q12815	TROAP_HUMAN	trophinin associated protein	257					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTCTTCCTAGCTTTCTCTCTT	0.458000													23	95					0	0	0.000586117	0	0
CD33	945	broad.mit.edu	37	19	51742799	51742799	+	Silent	SNP	T	T	C	rs149704584	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:51742799T>C	ENST00000262262.4	+	7	972	c.951T>C	c.(949-951)caT>caC	p.H317H	CD33_ENST00000421133.2_Silent_p.H190H|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	317					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAAGTTACATGGCCCCACTG	0.517000													9	39					0	0	0.000274275	0	0
OXGR1	27199	broad.mit.edu	37	13	97639130	97639130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:97639130G>A	ENST00000298440.1	-	4	1127	c.884C>T	c.(883-885)aCc>aTc	p.T295I	OXGR1_ENST00000543457.1_Missense_Mutation_p.T295I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	295						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTTACCAAAGGTGTTCAGAGC	0.458000													14	61					0	0	0.00185496	0	0
GPR141	353345	broad.mit.edu	37	7	37780892	37780892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:37780892G>A	ENST00000447769.1	+	4	1186	c.897G>A	c.(895-897)tgG>tgA	p.W299*	GPR141_ENST00000334425.1_Nonsense_Mutation_p.W299*|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCTTATGGAATTGTGTTT	0.368000													8	67					0	0	0.000274275	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926721	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:22926721G>A	ENST00000261374.3	+	2	1376	c.942G>A	c.(940-942)ttG>ttA	p.L314L		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAG	0.488000													30	160					0	0	0.00127121	0	0
MRPS35	60488	broad.mit.edu	37	12	27908197	27908197	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:27908197C>T	ENST00000081029.3	+	8	857	c.786C>T	c.(784-786)atC>atT	p.I262I	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	262					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAGAAATATCCTGGAAACGC	0.343000													24	114					0	0	0.00229938	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:40136969G>A	ENST00000278198.2	-	2	2837	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_ENST00000527150.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H292Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	292					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCTCTAGATGATGCAAGGGA	0.468000													16	80					0	0	0.000958276	0	0
CDH9	1007	broad.mit.edu	37	5	26890594	26890594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:26890594C>T	ENST00000231021.4	-	8	1505	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	445	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGGTCAAGGGCTTTCAAAGTG	0.418000													12	65					0	0	0.00136819	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951428	119951428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:119951428G>A	ENST00000307142.4	+	4	1694	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E500K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E500K|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	500						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGAGGAGGGAGAGAATGGA	0.517000													9	23					0	0	0.000442599	0	0
TLR3	7098	broad.mit.edu	37	4	187004730	187004730	+	Silent	SNP	C	C	T	rs145921610	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:187004730C>T	ENST00000296795.2	+	4	1994	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	TLR3_ENST00000504367.1_Silent_p.F353F	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	630					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAAGGTTTTCGGGCCAGCTT	0.393000													18	74					0	0	0.000566183	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474918	78474918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:78474918C>T	ENST00000258873.4	-	7	989	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E20K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E20K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	262					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCAGGGCTTCCTCAGGCACT	0.602000													6	21					0	0	0.00116845	0	0
BRINP3	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:190195314G>A	ENST00000367462.3	-	6	1090	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_ENST00000534846.1_Missense_Mutation_p.P185S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000													17	62					0	0	0.00121646	0	0
PTPRE	5791	broad.mit.edu	37	10	129866543	129866543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:129866543C>T	ENST00000254667.3	+	12	1279	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	PTPRE_ENST00000419012.2_Missense_Mutation_p.H334Y|PTPRE_ENST00000306042.5_Missense_Mutation_p.H276Y	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	334	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CATCGTGGTCCACTGTAGGTA	0.607000													5	21					0	0	0.000442599	0	0
POM121L12	285877	broad.mit.edu	37	7	53103501	53103501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:53103501C>T	ENST00000408890.4	+	1	153	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	46										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACGCCATCTCCCCAGGGTCGC	0.677000													6	55					0	0	0.00198382	0	0
CDH4	1002	broad.mit.edu	37	20	60498508	60498508	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:60498508G>A	ENST00000360469.5	+	10	1462		c.e10-1		CDH4_ENST00000543233.1_Splice_Site	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)						adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGTTGTTCCAGGCAGTCGACT	0.617000													7	52					0	0	0.000442599	0	0
TENM2	57451	broad.mit.edu	37	5	167674702	167674702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:167674702G>A	ENST00000519204.1	+	26	6513	c.6395G>A	c.(6394-6396)cGg>cAg	p.R2132Q	TENM2_ENST00000403607.2_Missense_Mutation_p.R2077Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R2253Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R2252Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R2014Q					teneurin transmembrane protein 2																		CTCCGGGATCGGATAACCAGA	0.532000													7	30					0	0	0.000157383	0	0
NME9	347736	broad.mit.edu	37	3	138038353	138038353	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:138038353G>A	ENST00000383180.2	-	5	333	c.96C>T	c.(94-96)atC>atT	p.I32I	NME9_ENST00000333911.3_Silent_p.I54I|NME9_ENST00000317876.4_Silent_p.I32I|NME9_ENST00000484930.1_Silent_p.I54I|NME9_ENST00000341790.5_Silent_p.I54I|NME9_ENST00000536478.1_Silent_p.I32I	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	54	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCCGACCTCGATCCTCATCT	0.438000													44	252					0	0	0.000781405	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812295	49812295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49812295G>A	ENST00000454748.3	-	7	1268	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	SLC6A16_ENST00000335875.4_Missense_Mutation_p.S356F			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	356						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGAGGCAACGGAGCCAAGGCC	0.473000													23	112					0	0	0.00278032	0	0
OR5P2	120065	broad.mit.edu	37	11	7818236	7818236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7818236C>T	ENST00000329434.2	-	1	284	c.254G>A	c.(253-255)aGa>aAa	p.R85K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACTGTATTTCTCTCCACCAG	0.488000													29	99					0	0	0.001512	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20126755	20126755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:20126755C>T	ENST00000334554.7	+	2	284	c.143C>T	c.(142-144)cCc>cTc	p.P48L	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P48L|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P48L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	48						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCAGCTGTTCCCGTCTACAAT	0.602000													17	61					0	0	0.00074312	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879272	209879272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:209879272G>A	ENST00000367028.2	+	3	374	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.E69K|HSD11B1_ENST00000367027.3_Missense_Mutation_p.E69K	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	69					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAGGTCAAAAGAAACTCTACA	0.478000													13	58					0	0	0.000422831	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270496	162270496	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:162270496G>A	ENST00000361897.5	+	4	746	c.344_splice	c.e4+1	p.R115_splice	NOS1AP_ENST00000530878.1_Splice_Site_p.R110_splice	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	115	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCATCTACAGGTAAGAGCCC	0.498000													12	46					0	0	0.000978159	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335879	20335879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:20335879G>A	ENST00000377252.3	+	3	1247	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGTGAACATAGACCAAATGGA	0.373000													26	106					0	0	0.000720815	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854441	12854441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12854441G>A	ENST00000332296.7	+	3	768	c.665G>A	c.(664-666)aGa>aAa	p.R222K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	222								p.R222I(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCTGATAAGAAAGCTTCGT	0.403000													73	529					0	0	0.000781405	0	0
COL21A1	81578	broad.mit.edu	37	6	56035923	56035923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:56035923G>A	ENST00000244728.5	-	4	1041	c.644C>T	c.(643-645)tCt>tTt	p.S215F	COL21A1_ENST00000535941.1_Missense_Mutation_p.S215F|COL21A1_ENST00000370819.1_Missense_Mutation_p.S215F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGACAGACAGATTCTATAAA	0.313000													18	83					0	0	0.00188189	0	0
CNBD2	140894	broad.mit.edu	37	20	34618533	34618533	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:34618533A>G	ENST00000373973.3	+	12	1867	c.1694A>G	c.(1693-1695)aAa>aGa	p.K565R	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.K561R					cyclic nucleotide binding domain containing 2																		CAAGCCATCAAAGCACCTCGG	0.463000													34	220					0	0	0.00170553	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668147	45668147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:45668147G>A	ENST00000588062.1	-	2	184	c.166C>T	c.(166-168)Cca>Tca	p.P56S	TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P70S|TRAPPC6A_ENST00000585934.1_Silent_p.F78F|TRAPPC6A_ENST00000006275.4_Silent_p.F92F	NM_001270893.1	NP_001257822.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	0					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TCTGCTTCTGGAACACCGCCA	0.637000													13	81					0	0	0.00244969	0	0
ADCY8	114	broad.mit.edu	37	8	131964220	131964220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:131964220G>A	ENST00000286355.5	-	3	3227	c.1135C>T	c.(1135-1137)Ccc>Tcc	p.P379S	ADCY8_ENST00000377928.3_Missense_Mutation_p.P379S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	379					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAAACCGGGGGAGCACAGAA	0.537000										HNSCC(32;0.087)			7	39					0	0	0.000157383	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:11505081G>A	ENST00000379237.1	-	15	2240	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S	USP6NL_ENST00000277575.5_Missense_Mutation_p.P633S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000													6	44					0	0	0.00116845	0	0
DSG4	147409	broad.mit.edu	37	18	28983456	28983456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:28983456C>T	ENST00000359747.4	+	11	1524	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	DSG4_ENST00000308128.4_Missense_Mutation_p.P499S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	499					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACATTTTTCCTGAAAGAAG	0.393000													11	22					0	0	0.000673444	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:167327137G>A	ENST00000409855.1	-	6	778	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000													9	26					0	0	0.000978159	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170426	90170426	+	Missense_Mutation	SNP	G	G	A	rs35079289		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:90170426G>A	ENST00000333209.3	-	2	1354	c.836C>T	c.(835-837)cCa>cTa	p.P279L		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	279										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCTGGACCTGGGGGACATGC	0.557000													16	111					0	0	0.000958276	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373960	86373960	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:86373960G>A	ENST00000604798.1	-	8	1748	c.544C>T	c.(544-546)Cta>Tta	p.L182L	MGAT4C_ENST00000548651.1_Silent_p.L182L|MGAT4C_ENST00000393205.2_Silent_p.L211L|MGAT4C_ENST00000549405.2_Silent_p.L182L|MGAT4C_ENST00000552808.2_Silent_p.L182L|MGAT4C_ENST00000332156.1_Silent_p.L182L|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	182					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGCCATCTAGGATTGGGTAA	0.373000													24	149					0	0	0.000878237	0	0
EZR	7430	broad.mit.edu	37	6	159188498	159188498	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:159188498T>A	ENST00000367075.3	-	13	1559	c.1391A>T	c.(1390-1392)cAc>cTc	p.H464L	EZR_ENST00000392177.4_Missense_Mutation_p.H432L|EZR_ENST00000337147.7_Missense_Mutation_p.H464L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	464	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CATCACCAGGTGCAGCTCCTC	0.587000			T	ROS1	NSCLC								11	54					0	0	0.000978159	0	0
CCDC150	284992	broad.mit.edu	37	2	197597238	197597238	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:197597238T>A	ENST00000389175.4	+	28	3393	c.3258T>A	c.(3256-3258)aaT>aaA	p.N1086K	CCDC150_ENST00000272831.7_Missense_Mutation_p.N733K|CCDC150_ENST00000409270.1_Missense_Mutation_p.N573K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1086										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAAACAGAATCTTAGGCCCA	0.433000													36	144					0	0	0.00195071	0	0
AMPD1	270	broad.mit.edu	37	1	115223028	115223028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:115223028G>A	ENST00000369538.3	-	5	753	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	AMPD1_ENST00000353928.6_Missense_Mutation_p.H207Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.H240Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	207					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATTTTGAGGTGATAGCCCAGG	0.443000													30	132					0	0	0.00283554	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													5	159					0	0	0.00116845	0	0
ELTD1	64123	broad.mit.edu	37	1	79383617	79383617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:79383617C>T	ENST00000370742.3	-	11	1643	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	527					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGCAAAAATCCCTTGTTGTA	0.418000													24	105					0	0	0.00047179	0	0
IRF3	3661	broad.mit.edu	37	19	50167994	50167994	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:50167994G>A	ENST00000597198.1	-	2	483	c.102C>T	c.(100-102)ttC>ttT	p.F34F	IRF3_ENST00000377139.3_Silent_p.F34F|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000309877.7_Silent_p.F34F|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Silent_p.F34F|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000600911.1_Silent_p.F34F|IRF3_ENST00000377135.4_Silent_p.F34F|IRF3_ENST00000442265.2_Silent_p.F34F|IRF3_ENST00000601291.1_Silent_p.F34F|IRF3_ENST00000598808.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	34					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AAGGGATGCGGAAGCGCGTGC	0.652000													19	89					0	0	0.00229938	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079793	34079793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:34079793G>A	ENST00000254466.6	-	1	104	c.77C>T	c.(76-78)tCg>tTg	p.S26L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S26L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	26					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTCACTCGACTTGAAAGG	0.637000													11	38					0	0	0.000978159	0	0
DBX2	440097	broad.mit.edu	37	12	45410386	45410386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:45410386G>A	ENST00000332700.6	-	4	874	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CTCCTGTTCTGAAACCAAATT	0.378000													17	73					0	0	0.00152264	0	0
ST14	6768	broad.mit.edu	37	11	130060506	130060506	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:130060506C>T	ENST00000278742.5	+	7	1210	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	264	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGACCTTGCGTCCT	0.701000													4	13					0	0	0.000602214	0	0
SAGE1	55511	broad.mit.edu	37	X	134991836	134991836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:134991836G>A	ENST00000535938.1	+	14	1788	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SAGE1_ENST00000324447.3_Missense_Mutation_p.E541K|SAGE1_ENST00000537770.1_Missense_Mutation_p.E165K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E541K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	541										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGAGAGGATGGAAAATAACCA	0.418000													18	43					0	0	0.00121646	0	0
HIPK3	10114	broad.mit.edu	37	11	33308619	33308619	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:33308619A>G	ENST00000303296.4	+	2	964	c.659A>G	c.(658-660)aAt>aGt	p.N220S	HIPK3_ENST00000525975.1_Missense_Mutation_p.N220S|HIPK3_ENST00000379016.3_Missense_Mutation_p.N220S|HIPK3_ENST00000456517.1_Missense_Mutation_p.N220S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	220	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGAGGGACAAATGAAATTGTA	0.388000													6	28					0	0	0.00116845	0	0
NUP98	4928	broad.mit.edu	37	11	3797192	3797192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:3797192G>A	ENST00000324932.7	-	5	835	c.415C>T	c.(415-417)Cct>Tct	p.P139S	NUP98_ENST00000397007.4_Missense_Mutation_p.P139S|NUP98_ENST00000359171.4_Missense_Mutation_p.P139S|NUP98_ENST00000355260.3_Missense_Mutation_p.P139S|NUP98_ENST00000397004.4_Missense_Mutation_p.P139S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	139	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGCCAAAAGGATTAGAGGTG	0.388000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								34	144					0	0	0.000814825	0	0
OR5H14	403273	broad.mit.edu	37	3	97868478	97868478	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:97868478C>T	ENST00000437310.1	+	1	309	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATGCTGATCAACTTCTTAG	0.393000													29	181					0	0	0.00127121	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560291	101560291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:101560291G>A	ENST00000536262.2	-	12	2065	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	503					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTATATTTGAAAAACACTA	0.328000													9	51					0	0	0.000673444	0	0
DIDO1	11083	broad.mit.edu	37	20	61512000	61512000	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:61512000T>C	ENST00000266070.4	-	16	5633	c.5308A>G	c.(5308-5310)Aat>Gat	p.N1770D	DIDO1_ENST00000395343.1_Missense_Mutation_p.N1770D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1770	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCGGGAAATTGGGGCCGTGA	0.637000													11	83					0	0	0.000673444	0	0
ME3	10873	broad.mit.edu	37	11	86382871	86382871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:86382871C>T	ENST00000543262.1	-	2	442	c.116G>A	c.(115-117)gGc>gAc	p.G39D	ME3_ENST00000393324.3_Missense_Mutation_p.G39D|ME3_ENST00000359636.2_Missense_Mutation_p.G39D	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	39					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCGCGCCGGGCCAGGCTTGGA	0.726000													7	51					0	0	0.000157383	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545582	234545582	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:234545582G>A	ENST00000344644.5	+	1	483	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.K138K	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATACTTAAAGGAGAGTTCTT	0.368000													23	114					0	0	0.00188189	0	0
GNL2	29889	broad.mit.edu	37	1	38034558	38034558	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:38034558T>C	ENST00000373062.3	-	13	1860	c.1762A>G	c.(1762-1764)Aat>Gat	p.N588D	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	588					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTCCCACATTTTCCTCCTCA	0.448000													35	155					0	0	0.000814825	0	0
CNTN5	53942	broad.mit.edu	37	11	99690377	99690377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:99690377G>A	ENST00000524871.1	+	4	448	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.R53Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.R53Q|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.R53Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	53					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAGACCACGATACAGCAGC	0.423000													10	87					0	0	0.000673444	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535044	6535044	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:6535044C>T	ENST00000245817.3	+	3	770	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	244					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCCCCGAAATCCCAGCCGGAC	0.632000													5	20					0	0	0.000602214	0	0
KRT33A	3883	broad.mit.edu	37	17	39504771	39504771	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:39504771C>T	ENST00000007735.3	-	3	596	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	184	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTCCTCCTTCAGGGACT	0.597000													14	65					0	0	0.000422831	0	0
LIME1	54923	broad.mit.edu	37	20	62370075	62370075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:62370075C>T	ENST00000309546.3	+	6	797	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCTACCAGACCCTCCCGCTC	0.672000													9	19					0	0	0.000442599	0	0
SAMD9	54809	broad.mit.edu	37	7	92734411	92734411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:92734411C>T	ENST00000379958.2	-	3	1269	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	334						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTACTTTGTTCCCATATTTTG	0.313000													18	68					0	0	0.00152264	0	0
GPR98	84059	broad.mit.edu	37	5	90059211	90059211	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:90059211C>T	ENST00000405460.2	+	59	12306	c.12210C>T	c.(12208-12210)gtC>gtT	p.V4070V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4070					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAACCGTCCGACTTGAGT	0.448000													6	33					0	0	0.00116845	0	0
OR5M1	390168	broad.mit.edu	37	11	56380844	56380844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56380844C>T	ENST00000526538.1	-	1	134	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCAGCAGGATCATGCACAGGT	0.478000													23	92					0	0	0.00278032	0	0
C8orf34	116328	broad.mit.edu	37	8	69621309	69621309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:69621309C>T	ENST00000337103.4	+	8	2581	c.989C>T	c.(988-990)tCa>tTa	p.S330L	C8orf34_ENST00000518698.1_Missense_Mutation_p.S441L|C8orf34_ENST00000539993.1_Missense_Mutation_p.S355L|C8orf34_ENST00000325233.3_Missense_Mutation_p.S99L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	355					signal transduction		cAMP-dependent protein kinase regulator activity	p.S355*(1)|p.S330*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCCCAGATTCATTCGGTAAG	0.343000													5	15					0	0	0.000602214	0	0
OR4A16	81327	broad.mit.edu	37	11	55111034	55111034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55111034C>T	ENST00000314721.2	+	1	408	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCTATGATCGCTATGTGGC	0.463000													26	165					0	0	0.00106085	0	0
ATP10B	23120	broad.mit.edu	37	5	160071175	160071175	+	Missense_Mutation	SNP	C	C	T	rs3749670		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:160071175C>T	ENST00000327245.5	-	9	1684	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	280					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGCCATCTCGGTGTTTCTG	0.483000													12	59					0	0	0.00185496	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187915	102187915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:102187915C>T	ENST00000306176.1	+	8	1017	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S290F|ZPLD1_ENST00000491959.1_Missense_Mutation_p.S290F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	290	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAGAAAATGTCCACTGTCTTC	0.463000													14	59					0	0	0.00185496	0	0
ZNF283	284349	broad.mit.edu	37	19	44352026	44352026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:44352026C>T	ENST00000324461.7	+	7	1570	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H286Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAAAGAATTCATACTGGTGA	0.388000													24	76					0	0	0.00278032	0	0
MMP20	9313	broad.mit.edu	37	11	102487566	102487566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:102487566C>T	ENST00000260228.2	-	2	363	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	117					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TATTTTTTTTCCATTTGGGTT	0.408000													5	31					0	0	0.000602214	0	0
C3	718	broad.mit.edu	37	19	6693001	6693001	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:6693001G>A	ENST00000245907.6	-	26	3416	c.3324C>T	c.(3322-3324)atC>atT	p.I1108I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1108					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTTCTCCAGGATCAGCCATT	0.552000													34	91					0	0	0.00283554	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:92136247G>A	ENST00000256343.3	-	14	1354	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000													18	45					0	0	0.00074312	0	0
NPHP1	4867	broad.mit.edu	37	2	110881626	110881626	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:110881626G>A	ENST00000316534.4	-	20	2017	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	NPHP1_ENST00000393272.3_Silent_p.F647F|NPHP1_ENST00000417665.1_Silent_p.F626F|NPHP1_ENST00000445609.2_Silent_p.F592F|NPHP1_ENST00000355301.4_Silent_p.F529F			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	647					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGGACTTCAGGAACTCTTTGT	0.448000													9	76					0	0	0.000978159	0	0
FBN3	84467	broad.mit.edu	37	19	8188693	8188693	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:8188693G>A	ENST00000600128.1	-	23	3345	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	FBN3_ENST00000270509.2_Silent_p.F977F|FBN3_ENST00000601739.1_Silent_p.F977F			Q75N90	FBN3_HUMAN	fibrillin 3	977						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGACAGGAAGTCCCGGC	0.672000													5	25					0	0	0.00116845	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652472	45652472	+	RNA	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:45652472A>G	ENST00000427229.2	+	0	1986																											CCAGCAAAAGAAAGACCTAGG	0.373000													5	12					0	0	0.000602214	0	0
TRIM22	10346	broad.mit.edu	37	11	5730400	5730400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5730400C>T	ENST00000379965.3	+	8	1296	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	340	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTGATTTTTCTGCTTTTGGT	0.443000													22	65					0	0	0.00229938	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:48267238G>A	ENST00000302329.3	+	1	631	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000													24	138					0	0	0.00278032	0	0
SPNS3	201305	broad.mit.edu	37	17	4391138	4391138	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4391138G>A	ENST00000355530.2	+	12	1768	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	SPNS3_ENST00000333476.2_Silent_p.L369L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	496					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCAACGACCTGGAGAGACAAG	0.622000													9	98					0	0	0.000274275	0	0
PASD1	139135	broad.mit.edu	37	X	150840219	150840219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:150840219G>A	ENST00000370357.4	+	13	1650	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	469						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACTGGGGAGCTTCAGGA	0.463000													12	51					0	0	0.00136819	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	C	T	rs75633112		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:119727733C>T	ENST00000541757.1	+	4	389	c.9C>T	c.(7-9)ttC>ttT	p.F3F	MARCO_ENST00000327097.4_Silent_p.F81F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000													13	84					0	0	0.00185496	0	0
NPY5R	4889	broad.mit.edu	37	4	164272362	164272362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:164272362C>T	ENST00000515560.1	+	4	2459	c.937C>T	c.(937-939)Cca>Tca	p.P313S	NPY5R_ENST00000506953.1_Missense_Mutation_p.P313S|NPY5R_ENST00000338566.3_Missense_Mutation_p.P313S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	313					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CAGAATACTTCCAGAAAACTT	0.408000													12	43					0	0	0.000978159	0	0
PRRG1	5638	broad.mit.edu	37	X	37312548	37312548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:37312548C>T	ENST00000542554.1	+	5	603	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.R111C|PRRG1_ENST00000449135.2_Missense_Mutation_p.R111C|PRRG1_ENST00000543642.1_Missense_Mutation_p.R111C|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	111						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAACAAAACTCGTAGACAGAC	0.443000													21	63					0	0	0.00152264	0	0
SNORD114-30	767611	broad.mit.edu	37	14	101458312	101458312	+	RNA	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:101458312G>A	ENST00000364448.1	+	0	57					NR_003223.1																						TGCCTATCTGGAACTCTGAGG	0.398000													14	58					0	0	0.000566183	0	0
FBLN1	2192	broad.mit.edu	37	22	45996279	45996279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:45996279C>T	ENST00000348697.2	+	20	2212	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	FBLN1_ENST00000327858.6_Nonsense_Mutation_p.R689*			P23142	FBLN1_HUMAN	fibulin 1	689					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTCTCCCACCGAAATGTTGT	0.607000													35	186					0	0	0.000953801	0	0
DGKE	8526	broad.mit.edu	37	17	54940014	54940014	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:54940014G>A	ENST00000284061.3	+	12	1746	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	522					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGTGGATGGGGAGCCTTGGG	0.433000													3	9					0	0	6.4e-05	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000													9	44					0	0	0.000673444	0	0
C10orf62	414157	broad.mit.edu	37	10	99350161	99350161	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:99350161G>A	ENST00000370640.3	+	1	712	c.507G>A	c.(505-507)agG>agA	p.R169R	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	169							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGAGCTGAGGGCCCTCGAGG	0.572000													21	69					0	0	0.000586117	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965498	35965498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35965498G>A	ENST00000274278.3	-	4	1190	c.833C>T	c.(832-834)cCa>cTa	p.P278L	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P224L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P278L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P244L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	278						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGTACTGGTTTAATAGG	0.473000													9	65					0	0	0.000978159	0	0
GALNT8	26290	broad.mit.edu	37	12	4854665	4854665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:4854665C>T	ENST00000252318.2	+	5	1268	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGACAACATTCGTTTTGACAC	0.498000													8	48					0	0	0.000157383	0	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:62462985C>T	ENST00000430451.2	+	1	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_ENST00000446982.2_Missense_Mutation_p.S83F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000													17	137					0	0	0.00074312	0	0
CNTN4	152330	broad.mit.edu	37	3	3078962	3078962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:3078962G>A	ENST00000397461.1	+	17	2426	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E	CNTN4_ENST00000397459.2_Missense_Mutation_p.G353E|CNTN4_ENST00000358480.3_Missense_Mutation_p.G462E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G681E|CNTN4_ENST00000448906.2_Missense_Mutation_p.G353E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G681E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	681	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACGTGATTGGGATTGGGGAG	0.532000													40	182					0	0	0.000781405	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:121828152G>A	ENST00000330540.2	+	5	860	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_ENST00000264468.5_Nonsense_Mutation_p.W35*|CD86_ENST00000493101.1_Nonsense_Mutation_p.W136*|CD86_ENST00000393627.2_Nonsense_Mutation_p.W242*|CD86_ENST00000469710.1_Nonsense_Mutation_p.W166*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	248					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000													11	70					0	0	0.000673444	0	0
ANK3	288	broad.mit.edu	37	10	61958111	61958111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61958111G>A	ENST00000280772.1	-	14	1867	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	ANK3_ENST00000503366.1_Missense_Mutation_p.S542F|ANK3_ENST00000373827.2_Missense_Mutation_p.S553F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	559					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTTGTTATAGATAAAGACGC	0.498000													8	47					0	0	0.000673444	0	0
MED12L	116931	broad.mit.edu	37	3	150840632	150840632	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:150840632G>A	ENST00000474524.1	+	3	305	c.267G>A	c.(265-267)acG>acA	p.T89T	MED12L_ENST00000273432.4_Silent_p.T89T|MED12L_ENST00000422248.2_Silent_p.T89T|MED12L_ENST00000309237.4_Silent_p.T89T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	89					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCAGGACACGGGAAAGAAGA	0.383000													4	20					0	0	0.00024832	0	0
RYR1	6261	broad.mit.edu	37	19	38976536	38976536	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:38976536C>T	ENST00000355481.4	+	34	5372	c.5241C>T	c.(5239-5241)ttC>ttT	p.F1747F	RYR1_ENST00000360985.3_Silent_p.F1747F|RYR1_ENST00000359596.3_Silent_p.F1747F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1747	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACGCTCTTCCCTCCTGGAA	0.632000													13	41					0	0	0.00136819	0	0
DSCR10	259234	broad.mit.edu	37	21	39580244	39580244	+	RNA	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:39580244G>A	ENST00000432141.1	+	0	366					NR_027695.1																						AGCTCACATGGACCCAAGTTG	0.448000													9	41					0	0	0.000274275	0	0
TRANK1	9881	broad.mit.edu	37	3	36872672	36872672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:36872672G>A	ENST00000429976.2	-	21	8517	c.8270C>T	c.(8269-8271)tCc>tTc	p.S2757F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S2207F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S2207F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2757					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAGCCCTGGAAAGGACTGC	0.557000													13	53					0	0	0.000422831	0	0
ITGA4	3676	broad.mit.edu	37	2	182360613	182360613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:182360613G>A	ENST00000397033.2	+	14	1919	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	497					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGTGCATAGATCTAACACT	0.408000													15	90					0	0	0.00244969	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987923	154987923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:154987923C>T	ENST00000368426.3	+	3	924	c.787C>T	c.(787-789)Cct>Tct	p.P263S	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.P263S|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.P263S|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.P297S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	263					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTGCCTCCCCTCCTGAGGG	0.657000													4	18					0	0	0.000602214	0	0
MIR382	494331	broad.mit.edu	37	14	101520696	101520696	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:101520696C>T	ENST00000385009.2	-	0	27					NR_029874.1																						ACGAATCATTCACGGACAACA	0.438000													6	21					0	0	0.00198382	0	0
STEAP3	55240	broad.mit.edu	37	2	120020656	120020656	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:120020656C>T	ENST00000354888.5	+	6	1713	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	STEAP3_ENST00000393108.2_Silent_p.L403L|STEAP3_ENST00000425223.2_Silent_p.L403L|STEAP3_ENST00000409811.1_3'UTR|STEAP3_ENST00000393110.2_Silent_p.L413L|STEAP3_ENST00000393106.2_Silent_p.L403L|STEAP3_ENST00000393107.2_Silent_p.L403L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	403	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TTGTGGCCCTCGTGCTGAGCA	0.607000													23	102					0	0	0.000586117	0	0
CCDC67	159989	broad.mit.edu	37	11	93088644	93088644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:93088644G>A	ENST00000298050.3	+	3	237	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.R46Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTGGAGACACGATTAGATCTT	0.388000													14	58					0	0	0.000308642	0	0
TRAV5	28688	broad.mit.edu	37	14	22217922	22217922	+	RNA	SNP	A	A	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:22217922A>T	ENST00000390427.3	+	0	285																											AAAAGGATAAACATCTGTCTC	0.438000													17	61					0	0	0.00121646	0	0
ZNF536	9745	broad.mit.edu	37	19	30936285	30936285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:30936285G>A	ENST00000355537.3	+	2	1963	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCAGTCGGGATTTTTTGTC	0.552000													16	92					0	0	0.000422831	0	0
P2RY14	9934	broad.mit.edu	37	3	150931647	150931647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:150931647G>A	ENST00000309170.3	-	3	770	c.458C>T	c.(457-459)gCt>gTt	p.A153V	P2RY14_ENST00000424796.2_Missense_Mutation_p.A153V|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	153						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTGGAACAGCAAGGAGGAG	0.393000													18	49					0	0	0.00121646	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173338	57173338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57173338G>A	ENST00000371244.4	+	9	1677	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	537					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCACACCATGGATTTTTTTG	0.433000													23	110					0	0	0.00047179	0	0
FSIP2	401024	broad.mit.edu	37	2	186673115	186673115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:186673115G>A	ENST00000343098.5	+	17	19349	c.19349G>A	c.(19348-19350)aGg>aAg	p.R6450K	FSIP2_ENST00000424728.1_Missense_Mutation_p.R6361K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACTAATAAGGTTGCCAAGT	0.348000													9	30					0	0	0.000673444	0	0
KNDC1	85442	broad.mit.edu	37	10	135026241	135026241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:135026241C>T	ENST00000304613.3	+	24	4279	c.4258C>T	c.(4258-4260)Cga>Tga	p.R1420*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.R1422*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1420					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGGCTGCCCCGAGGCAACGG	0.701000													7	29					0	0	0.00198382	0	0
WFDC10A	140832	broad.mit.edu	37	20	44259522	44259522	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:44259522C>T	ENST00000372643.3	+	2	393	c.105C>T	c.(103-105)tcC>tcT	p.S35S	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	35	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CACAGCTATCCCCAGAAATCA	0.413000													7	26					0	0	0.000157383	0	0
GP6	51206	broad.mit.edu	37	19	55527069	55527069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:55527069C>T	ENST00000310373.3	-	7	784	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GP6_ENST00000333884.2_Missense_Mutation_p.E235K|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.E253K	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	253					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGTCTGACTCCTTTGGACTG	0.527000													16	57					0	0	0.000566183	0	0
DLG1	1739	broad.mit.edu	37	3	196842847	196842847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:196842847C>T	ENST00000346964.2	-	14	1682	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	DLG1_ENST00000422288.1_Missense_Mutation_p.G447E|DLG1_ENST00000419354.1_Missense_Mutation_p.G498E|DLG1_ENST00000392382.2_Missense_Mutation_p.G465E|DLG1_ENST00000452595.1_Missense_Mutation_p.G382E|DLG1_ENST00000314062.3_Missense_Mutation_p.G447E|DLG1_ENST00000357674.4_Missense_Mutation_p.G465E|DLG1_ENST00000450955.1_Missense_Mutation_p.G465E|DLG1_ENST00000448528.2_Missense_Mutation_p.G498E|DLG1_ENST00000443183.1_Missense_Mutation_p.G382E	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	498	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATCAGCAGGTCCTCCGGCTAA	0.408000													16	81					0	0	0.00074312	0	0
GALNT16	57452	broad.mit.edu	37	14	69814750	69814750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:69814750C>T	ENST00000553669.1	+	14	1570	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	GALNT16_ENST00000337827.4_Intron|GALNT16_ENST00000448469.3_Intron					UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CCCAGAGGCCCAGCAGCCCGA	0.607000													5	30					0	0	0.000602214	0	0
HPS3	84343	broad.mit.edu	37	3	148884866	148884866	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:148884866T>C	ENST00000296051.2	+	15	2775	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	HPS3_ENST00000460120.1_Missense_Mutation_p.F714L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	879						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATTATTCCGTTCTTGGAGCC	0.403000									Hermansky-Pudlak syndrome				10	172					0	0	0.000978159	0	0
C9	735	broad.mit.edu	37	5	39311479	39311479	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:39311479C>T	ENST00000263408.4	-	7	966	c.870_splice	c.e7-1	p.E291_splice		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	291	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AACATTTTTTCCTGTGTTGTA	0.328000													19	47					0	0	0.00121646	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124399	142124399	+	RNA	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:142124399G>A	ENST00000390376.2	-	0	78																											TGGAATTTTGGGGTCTGAGTG	0.522000													21	32					0	0	0.00188189	0	0
FAT4	79633	broad.mit.edu	37	4	126411438	126411438	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:126411438T>A	ENST00000394329.3	+	17	13474	c.13461T>A	c.(13459-13461)caT>caA	p.H4487Q	FAT4_ENST00000335110.5_Missense_Mutation_p.H2728Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4487					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCGGGGCATGTCTGTGTTC	0.617000													8	65					0	0	0.000274275	0	0
MUC17	140453	broad.mit.edu	37	7	100679607	100679607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100679607C>T	ENST00000306151.4	+	3	4974	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.493000													50	293					0	0	0.000781405	0	0
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:14212034G>A	ENST00000285021.7	-	3	530	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	XPC_ENST00000449060.2_Missense_Mutation_p.L106F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				32	149					0	0	0.00058488	0	0
OR10H4	126541	broad.mit.edu	37	19	16059877	16059877	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:16059877C>T	ENST00000322107.1	+	1	60	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCTCAGCCTTCCCCCAGCACC	0.458000													42	128					0	0	0.000781405	0	0
LILRB2	10288	broad.mit.edu	37	19	54779819	54779819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:54779819C>T	ENST00000391748.1	-	13	1760	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	LILRB2_ENST00000314446.5_Missense_Mutation_p.E545K|LILRB2_ENST00000391749.4_Missense_Mutation_p.E546K|LILRB2_ENST00000434421.1_Missense_Mutation_p.E430K|LILRB2_ENST00000391746.1_3'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	546					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTCCATCTCCACCCCATCT	0.622000													18	107					0	0	0.00152264	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70742476	70742476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:70742476C>T	ENST00000370944.4	-	10	1580	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.E388K	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	423					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATATATTCTTCCCATGTAATA	0.328000													18	74					0	0	0.00188189	0	0
OR52R1	119695	broad.mit.edu	37	11	4824952	4824952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:4824952G>A	ENST00000380382.1	-	1	895	c.896C>T	c.(895-897)tCa>tTa	p.S299L	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S220L|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCACGTATGACATACCAAT	0.483000													7	37					0	0	0.00198382	0	0
DNAH7	56171	broad.mit.edu	37	2	196801389	196801389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:196801389G>A	ENST00000312428.6	-	20	3306	c.3206C>T	c.(3205-3207)cCc>cTc	p.P1069L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1069	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATCTGGGGAAAAAGAG	0.328000													13	82					0	0	0.00244969	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738293	138738293	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:138738293G>T	ENST00000242351.5	-	12	2669	c.2353C>A	c.(2353-2355)Cta>Ata	p.L785I	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L907I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	785	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCATAAAATAGGAGTTTTCCT	0.378000													29	78					6.38683e-12	2.24046e-11	0.001512	1	0
SETBP1	26040	broad.mit.edu	37	18	42618613	42618613	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:42618613G>A	ENST00000282030.5	+	5	4460	c.4164G>A	c.(4162-4164)tcG>tcA	p.S1388S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1388						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGCAACGTCGGATGCAGGTG	0.507000									Schinzel-Giedion syndrome				11	36					0	0	0.000978159	0	0
CGNL1	84952	broad.mit.edu	37	15	57744449	57744449	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:57744449G>A	ENST00000281282.5	+	6	2094	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	672						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAACGACTGGAAGAAAGTG	0.493000													4	18					0	0	0.000602214	0	0
ZNF334	55713	broad.mit.edu	37	20	45131203	45131203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:45131203G>A	ENST00000457685.2	-	6	1984	c.661C>T	c.(661-663)Cat>Tat	p.H221Y	ZNF334_ENST00000347606.4_Missense_Mutation_p.H259Y|ZNF334_ENST00000593880.1_Missense_Mutation_p.H282Y			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCCCTGTATGAATTCTCTGA	0.403000													22	83					0	0	0.00188189	0	0
PSG2	5670	broad.mit.edu	37	19	43575885	43575885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:43575885C>T	ENST00000406487.1	-	4	1029	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	311	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGGAGCTTTCCTCGCCAGTG	0.468000													42	169					0	0	0.00222228	0	0
ATXN7	6314	broad.mit.edu	37	3	63981396	63981396	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:63981396G>T	ENST00000398590.3	+	12	2451	c.1898G>T	c.(1897-1899)gGg>gTg	p.G633V	ATXN7_ENST00000295900.6_Missense_Mutation_p.G633V|ATXN7_ENST00000487717.1_Missense_Mutation_p.G633V|ATXN7_ENST00000538065.1_Missense_Mutation_p.G633V|ATXN7_ENST00000484332.1_Missense_Mutation_p.G488V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	633					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCTGCTTCAGGGGCGATGGAT	0.547000													6	109					0.00198382	0.00688624	0.00198382	1	0
ADCY7	113	broad.mit.edu	37	16	50349400	50349400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:50349400G>A	ENST00000394697.2	+	26	3567	c.3227G>A	c.(3226-3228)gGg>gAg	p.G1076E	ADCY7_ENST00000254235.3_Missense_Mutation_p.G1076E			P51828	ADCY7_HUMAN	adenylate cyclase 7	1076					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AAGTTTCAGGGGCTGGGGCTG	0.592000													13	65					0	0	0.000308642	0	0
GABRB2	2561	broad.mit.edu	37	5	160761781	160761781	+	Silent	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:160761781A>C	ENST00000274547.2	-	8	1027	c.810T>G	c.(808-810)gcT>gcG	p.A270A	GABRB2_ENST00000520240.1_Silent_p.A270A|GABRB2_ENST00000353437.6_Silent_p.A270A|GABRB2_ENST00000393959.1_Silent_p.A270A|GABRB2_ENST00000517547.1_Silent_p.A110A|GABRB2_ENST00000517901.1_Silent_p.A207A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	270					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCAGCTGAAGCATCGTAAT	0.433000													10	51					0	0	0.000978159	0	0
LATS2	26524	broad.mit.edu	37	13	21557732	21557732	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:21557732G>A	ENST00000382592.4	-	5	2518	c.2113C>T	c.(2113-2115)Ctg>Ttg	p.L705L	LATS2_ENST00000542899.1_Silent_p.L705L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	705	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGGTTCAGGACATCCTTT	0.547000													14	77					0	0	0.00244969	0	0
LRP1	4035	broad.mit.edu	37	12	57570907	57570907	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:57570907T>A	ENST00000243077.3	+	25	4541	c.4075T>A	c.(4075-4077)Tac>Aac	p.Y1359N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1359					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCAACATCTACTGGGTGGA	0.592000													12	67					0	0	0.00244969	0	0
ZEB1	6935	broad.mit.edu	37	10	31810669	31810669	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:31810669C>T	ENST00000446923.2	+	7	2749	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	ZEB1_ENST00000542815.3_Silent_p.I735I|ZEB1_ENST00000560721.2_Silent_p.I782I|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.I802I|ZEB1_ENST00000361642.5_Silent_p.I803I	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	802					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCATAAATATCGCTATACCTA	0.463000													10	43					0	0	0.000442599	0	0
HCN3	57657	broad.mit.edu	37	1	155253895	155253895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:155253895C>T	ENST00000368358.3	+	3	847	c.839C>T	c.(838-840)cCc>cTc	p.P280L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	280						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACTTCCCTCCCGACTGCTGG	0.572000													9	52					0	0	0.000442599	0	0
TRAV19	28664	broad.mit.edu	37	14	22475845	22475845	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:22475845C>T	ENST00000390447.3	+	0	95																											CGGAACATTTCACTCAGGGGA	0.498000													4	17					0	0	0.00024832	0	0
CADPS	8618	broad.mit.edu	37	3	62535619	62535619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:62535619C>T	ENST00000383710.4	-	11	2274	c.1925G>A	c.(1924-1926)gGa>gAa	p.G642E	CADPS_ENST00000283269.9_Missense_Mutation_p.G642E|CADPS_ENST00000357948.3_Missense_Mutation_p.G642E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	642					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TACATTTCCTCCCTTGGCGTT	0.498000													25	87					0	0	0.000720815	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805734	102805734	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:102805734A>C	ENST00000264257.2	+	3	383	c.257A>C	c.(256-258)gAa>gCa	p.E86A	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E86A|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	86	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTCCCCATGGAATGGGGGGAC	0.348000													8	22					0	0	0.000274275	0	0
ME1	4199	broad.mit.edu	37	6	84025066	84025066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:84025066C>T	ENST00000369705.3	-	6	783	c.667G>A	c.(667-669)Gat>Aat	p.D223N	ME1_ENST00000543031.1_Missense_Mutation_p.D148N|ME1_ENST00000541327.1_Missense_Mutation_p.D57N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	223					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCCAAAAAATCATCATATTCA	0.294000													15	60					0	0	0.00074312	0	0
PDE1A	5136	broad.mit.edu	37	2	183104855	183104855	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:183104855G>C	ENST00000435564.1	-	3	580	c.380C>G	c.(379-381)gCt>gGt	p.A127G	PDE1A_ENST00000358139.2_Missense_Mutation_p.A127G|PDE1A_ENST00000410103.1_Missense_Mutation_p.A127G|PDE1A_ENST00000351439.5_Missense_Mutation_p.A111G|PDE1A_ENST00000409365.1_Missense_Mutation_p.A111G|PDE1A_ENST00000456212.1_Missense_Mutation_p.A127G|PDE1A_ENST00000536095.1_Missense_Mutation_p.A23G|PDE1A_ENST00000331935.6_Missense_Mutation_p.A127G|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.A93G	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAATTCCAGCTTGAACAGC	0.403000													15	81					0	0	0.000422831	0	0
MYO1F	4542	broad.mit.edu	37	19	8616666	8616666	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:8616666C>T	ENST00000338257.8	-	8	996	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	243	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGCCGTCCACCTGGTAGGTGT	0.612000													15	57					0	0	0.00244969	0	0
MCCC1	56922	broad.mit.edu	37	3	182789020	182789020	+	Missense_Mutation	SNP	G	G	A	rs144512424	by1000genomes	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:182789020G>A	ENST00000492597.1	-	5	992	c.290C>T	c.(289-291)gCc>gTc	p.A97V	MCCC1_ENST00000265594.4_Missense_Mutation_p.A206V|MCCC1_ENST00000539926.1_Missense_Mutation_p.A71V			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	206	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACCCCGGACGGCTTTAATCAT	0.453000													13	70					0	0	0.00136819	0	0
BMI1	648	broad.mit.edu	37	10	22618322	22618322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:22618322C>T	ENST00000376663.3	+	10	1337	c.832C>T	c.(832-834)Cca>Tca	p.P278S	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P421S	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCCCAGTACTCCAGTGCAGTC	0.507000													22	103					0	0	0.00047179	0	0
IFNA8	3445	broad.mit.edu	37	9	21409573	21409573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21409573C>T	ENST00000380205.1	+	1	428	c.398C>T	c.(397-399)cCc>cTc	p.P133L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATAGAGTCTCCCCTGATGTAC	0.478000													30	83					0	0	0.00209593	0	0
GBP6	163351	broad.mit.edu	37	1	89843692	89843692	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:89843692G>T	ENST00000370456.4	+	4	442	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	GBP6_ENST00000535065.1_5'UTR	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	117							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTGGATCTTTGCCCTGGCTGT	0.473000													32	170					1.32136e-16	4.64342e-16	0.00195071	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110439294	110439294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:110439294G>A	ENST00000378402.5	+	25	3013	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	970					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGGAATGGGAAGAATCTCA	0.552000										HNSCC(38;0.096)			14	60					0	0	0.00185496	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796232	1796232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:1796232C>T	ENST00000539485.1	-	17	2019	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ATP8B3_ENST00000525591.1_Missense_Mutation_p.E549K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E596K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	596					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCCCCTCGTCGGGGGAG	0.662000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.00024832	0	0
ABL2	27	broad.mit.edu	37	1	179087822	179087822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:179087822C>T	ENST00000502732.1	-	7	1326	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	ABL2_ENST00000507173.1_Missense_Mutation_p.E354K|ABL2_ENST00000344730.3_Missense_Mutation_p.E360K|ABL2_ENST00000511413.1_Missense_Mutation_p.E375K|ABL2_ENST00000408940.3_Missense_Mutation_p.E339K|ABL2_ENST00000504405.1_Missense_Mutation_p.E339K|ABL2_ENST00000367623.4_Missense_Mutation_p.E354K|ABL2_ENST00000512653.1_Missense_Mutation_p.E360K|ABL2_ENST00000392043.3_Missense_Mutation_p.E354K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	375	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E339*(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CGGTTGCATTCTCGGAGGTAA	0.428000			T	ETV6	AML								13	84					0	0	0.00185496	0	0
SYNE2	23224	broad.mit.edu	37	14	64421518	64421518	+	Silent	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:64421518A>G	ENST00000358025.3	+	8	902	c.672A>G	c.(670-672)cgA>cgG	p.R224R	SYNE2_ENST00000554584.1_Silent_p.R224R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.R224R|SYNE2_ENST00000344113.4_Silent_p.R224R|SYNE2_ENST00000341472.5_Silent_p.R224R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	224	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGCCTTGCGACCAGACCTAA	0.393000													7	56					0	0	0.000157383	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921104	12921104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12921104G>A	ENST00000240189.2	+	4	982	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	299										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAACTTGGAATTAACTTG	0.478000													23	116					0	0	0.00047179	0	0
TSGA10	80705	broad.mit.edu	37	2	99695147	99695147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:99695147G>A	ENST00000393483.3	-	12	1701	c.857C>T	c.(856-858)tCc>tTc	p.S286F	TSGA10_ENST00000539964.1_Missense_Mutation_p.S286F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S286F|TSGA10_ENST00000542655.1_Missense_Mutation_p.S286F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S286F|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	286					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTCCAAGGGATGCAATATT	0.353000													9	48					0	0	0.000274275	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103014048	103014048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:103014048C>T	ENST00000375735.2	+	18	2770	c.2626C>T	c.(2626-2628)Ctt>Ttt	p.L876F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L876F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	876	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAAAAGCATCTTTTTACTGT	0.318000													12	135					0	0	0.00244969	0	0
PSIP1	11168	broad.mit.edu	37	9	15468713	15468713	+	Silent	SNP	A	A	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:15468713A>T	ENST00000380733.4	-	14	1678	c.1335T>A	c.(1333-1335)gcT>gcA	p.A445A	PSIP1_ENST00000380738.4_Silent_p.A445A			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	445					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTCTTTGTTCAGCAAGAGATT	0.388000													28	100					0	0	0.00106085	0	0
LRRCC1	85444	broad.mit.edu	37	8	86038926	86038926	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:86038926C>T	ENST00000414626.2	+	8	2104	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	LRRCC1_ENST00000360375.3_Silent_p.S425S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	425					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTTCAGTCCCTTGTTGAAC	0.378000													6	24					0	0	0.00116845	0	0
LRRC45	201255	broad.mit.edu	37	17	79986379	79986379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:79986379C>T	ENST00000306688.3	+	11	1574	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	411						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCATCCAGGCCGAGGGTGGG	0.672000													4	34					0	0	0.00024832	0	0
FAT4	79633	broad.mit.edu	37	4	126411478	126411478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:126411478C>T	ENST00000394329.3	+	17	13514	c.13501C>T	c.(13501-13503)Cct>Tct	p.P4501S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2742S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4501					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCTCTCTGCCTTTGTGGGC	0.602000													7	54					0	0	0.000157383	0	0
CHD5	26038	broad.mit.edu	37	1	6206310	6206310	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:6206310C>T	ENST00000262450.3	-	11	1863	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	588					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCACTCTGGCTTGATGCCAT	0.587000													20	90					0	0	0.000720815	0	0
MGAT4A	11320	broad.mit.edu	37	2	99251711	99251711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:99251711C>T	ENST00000393487.1	-	14	1755	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	MGAT4A_ENST00000414521.2_Missense_Mutation_p.R353Q|MGAT4A_ENST00000264968.2_Missense_Mutation_p.R481Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R481Q	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	481					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R481Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						ATCTTCTAATCGTTTGTCTTT	0.274000													5	39					0	0	0.00116845	0	0
BCS1L	617	broad.mit.edu	37	2	219525750	219525750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219525750C>T	ENST00000431802.1	+	2	739	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	BCS1L_ENST00000439945.1_Missense_Mutation_p.P14S|BCS1L_ENST00000392109.1_Missense_Mutation_p.P14S|BCS1L_ENST00000359273.3_Missense_Mutation_p.P14S|BCS1L_ENST00000392110.2_Missense_Mutation_p.P14S|BCS1L_ENST00000412366.1_Missense_Mutation_p.P14S|BCS1L_ENST00000392111.2_Missense_Mutation_p.P14S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	14					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGACAATCCCTACTTTGG	0.577000													20	93					0	0	0.00229938	0	0
KLHL21	9903	broad.mit.edu	37	1	6659367	6659367	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:6659367G>A	ENST00000377663.3	-	2	1350	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	KLHL21_ENST00000467612.1_Silent_p.A22A|KLHL21_ENST00000377658.4_Silent_p.A389A|KLHL21_ENST00000463043.1_Silent_p.A22A			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	389					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGGTGCTGTCGGCGGCCACCA	0.652000													8	25					0	0	0.000978159	0	0
ELTD1	64123	broad.mit.edu	37	1	79383561	79383561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:79383561C>T	ENST00000370742.3	-	11	1699	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCGAAAATCCAACTACCACG	0.373000													35	146					0	0	0.00283554	0	0
NREP	9315	broad.mit.edu	37	5	111066639	111066639	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:111066639G>A	ENST00000379671.3	-	5	450	c.186C>T	c.(184-186)atC>atT	p.I62I	NREP_ENST00000257435.7_Silent_p.I62I|NREP_ENST00000450761.2_Silent_p.I62I|NREP_ENST00000395634.3_Silent_p.I106I|NREP_ENST00000509427.1_Silent_p.I62I|NREP_ENST00000508870.1_Silent_p.I62I|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000419114.2_Silent_p.I62I|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000446294.2_Silent_p.I62I|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000453526.2_Silent_p.I62I|NREP_ENST00000509025.1_Intron|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Silent_p.I62I|NREP_ENST00000447165.2_Silent_p.I62I	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	62						cytoplasm											GGAGGTAACTGATTCTTGGGG	0.448000													27	95					0	0	0.000720815	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257349	140257349	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:140257349G>A	ENST00000398631.2	+	1	2292	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGAGCCCGCCCAAGACGG	0.557000													6	11					0	0	0.00116845	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566007	18566007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:18566007G>A	ENST00000545289.1	-	5	1062	c.812C>T	c.(811-813)cCc>cTc	p.P271L		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GCAGGTATAGGGTTTCTCTCC	0.378000													13	40					0	0	0.00121646	0	0
HDAC1	3065	broad.mit.edu	37	1	32796205	32796205	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:32796205C>T	ENST00000373548.3	+	8	840	c.756C>T	c.(754-756)ttC>ttT	p.F252F	HDAC1_ENST00000373541.2_Silent_p.F59F|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	252	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGGAGATGTTCCAGCCTAGTG	0.483000													33	140					0	0	0.00222228	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421261	37421261	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:37421261A>C	ENST00000374660.1	+	4	535	c.436A>C	c.(436-438)Aat>Cat	p.N146H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N146H|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.N146H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	202						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATGCAGTTAATAAGTATAA	0.294000													20	64					0	0	0.00152264	0	0
SALL1	6299	broad.mit.edu	37	16	51173761	51173761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:51173761C>T	ENST00000440970.1	-	2	2512	c.2081G>A	c.(2080-2082)gGc>gAc	p.G694D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G791D|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	791					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGATCTGGCCTCCCATATG	0.537000													21	57					0	0	0.00152264	0	0
TIAM2	26230	broad.mit.edu	37	6	155451108	155451108	+	Missense_Mutation	SNP	G	G	A	rs151266968		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:155451108G>A	ENST00000461783.3	+	6	2024	c.751G>A	c.(751-753)Gac>Aac	p.D251N	TIAM2_ENST00000318981.5_Missense_Mutation_p.D251N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D251N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D251N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D251N|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	251					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCCTGGTACGACTCCCCTTG	0.662000													15	74					0	0	0.00074312	0	0
DSCAM	1826	broad.mit.edu	37	21	41496187	41496187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:41496187G>A	ENST00000400454.1	-	20	4108	c.3631C>T	c.(3631-3633)Ccc>Tcc	p.P1211S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1211	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAGAGGGGGAAGCCAGGAC	0.552000													47	104					0	0	0.00285205	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597702	101597702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:101597702C>T	ENST00000310954.6	-	5	1221	c.935G>A	c.(934-936)gGa>gAa	p.G312E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	312					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCACCAAGCTCCCAACCATCG	0.368000													6	33					0	0	0.000157383	0	0
TRANK1	9881	broad.mit.edu	37	3	36897977	36897977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:36897977C>T	ENST00000429976.2	-	12	3351	c.3104G>A	c.(3103-3105)gGc>gAc	p.G1035D	TRANK1_ENST00000428977.2_Missense_Mutation_p.G485D|TRANK1_ENST00000301807.6_Missense_Mutation_p.G485D			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1035					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCCCAGTGCCACTTCGCCC	0.552000													11	38					0	0	0.00136819	0	0
TWSG1	57045	broad.mit.edu	37	18	9396361	9396361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:9396361C>T	ENST00000262120.5	+	4	498	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	TWSG1_ENST00000581641.1_Missense_Mutation_p.L103F	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	103								p.I100fs*10(1)|p.L103I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GATCCCTTCTCTCTTCCGGGC	0.448000													9	55					0	0	0.00136819	0	0
FREM2	341640	broad.mit.edu	37	13	39425984	39425984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:39425984G>A	ENST00000280481.7	+	11	7120	c.6904G>A	c.(6904-6906)Gac>Aac	p.D2302N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2302	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGGAGAAGACTACCACCC	0.517000													13	46					0	0	0.000422831	0	0
ABCC8	6833	broad.mit.edu	37	11	17426145	17426145	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:17426145G>A	ENST00000302539.4	-	28	3599	c.3474C>T	c.(3472-3474)tcC>tcT	p.S1158S	ABCC8_ENST00000389817.3_Silent_p.S1157S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1157	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTGTGACATAGGAGATGACGG	0.622000													34	153					0	0	0.00128727	0	0
MYO1H	283446	broad.mit.edu	37	12	109826566	109826566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:109826566G>A	ENST00000310903.5	+	2	149	c.43G>A	c.(43-45)Gat>Aat	p.D15N	MYO1H_ENST00000431443.2_Missense_Mutation_p.D15N			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CGGGGTTCAGGATTTTGTGCT	0.522000													33	159					0	0	0.00209593	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156711040	156711040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:156711040C>T	ENST00000264424.8	+	5	554	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.H90Y|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.H138Y|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.H180Y|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.H158Y|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.H90Y|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.H90Y	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	158					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAACAAATCCATGGCACTGA	0.373000													17	91					0	0	0.00152264	0	0
DST	667	broad.mit.edu	37	6	56473871	56473871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:56473871G>A	ENST00000370754.5	-	39	5455	c.5456C>T	c.(5455-5457)aCa>aTa	p.T1819I	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T1641I|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T1315I|DST_ENST00000370769.4_Missense_Mutation_p.T1641I|DST_ENST00000312431.6_Missense_Mutation_p.T1641I			Q03001	DYST_HUMAN	dystonin	1641					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTGGAATTGTGGTAGGTGA	0.408000													50	283					0	0	0.000781405	0	0
OR6C3	254786	broad.mit.edu	37	12	55725560	55725560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55725560C>T	ENST00000379667.1	+	1	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTGATTTTTCTCTTTTTATT	0.413000													19	97					0	0	0.00121646	0	0
TRIM51	84767	broad.mit.edu	37	11	55658717	55658717	+	Missense_Mutation	SNP	G	G	A	rs138042923	by1000genomes	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55658717G>A	ENST00000449290.2	+	7	1060	c.968G>A	c.(967-969)gGa>gAa	p.G323E	TRIM51_ENST00000244891.3_Missense_Mutation_p.G180E	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	323	B30.2/SPRY.					intracellular	zinc ion binding	p.G323A(1)|p.G164A(1)									GATATCACTGGAAAATCTGAA	0.443000													33	126					0	0	0.000692331	0	0
BAG2	9532	broad.mit.edu	37	6	57048731	57048731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:57048731G>A	ENST00000370693.5	+	3	751	c.379G>A	c.(379-381)Gat>Aat	p.D127N	BAG2_ENST00000545080.1_Missense_Mutation_p.D94N	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	127	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTTTCTGGATGATTTGGGAAA	0.423000													21	73					0	0	0.000720815	0	0
ADAM29	11086	broad.mit.edu	37	4	175898057	175898057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:175898057G>A	ENST00000359240.3	+	5	2051	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	ADAM29_ENST00000445694.1_Missense_Mutation_p.E461K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E461K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E461K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	461	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGAGGTCAATGAATGTGATCT	0.448000													13	60					0	0	0.00244969	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390930	8390930	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:8390930C>T	ENST00000471889.1	+	5	1762	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.I493I|SLC45A1_ENST00000289877.8_Silent_p.I459I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	459					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGGCCATCCCGGACGCAG	0.597000													22	84					0	0	0.00278032	0	0
DDX43	55510	broad.mit.edu	37	6	74104798	74104798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:74104798C>T	ENST00000370336.4	+	1	328	c.170C>T	c.(169-171)cCc>cTc	p.P57L	DDX43_ENST00000539829.1_Missense_Mutation_p.P57L|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	57						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACCTCTAGGCCCCCGGAGGCC	0.622000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	36					0	0	0.000673444	0	0
TRPM6	140803	broad.mit.edu	37	9	77400927	77400927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:77400927G>A	ENST00000451710.3	-	21	3019	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	TRPM6_ENST00000376864.4_Nonsense_Mutation_p.R928*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.R923*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.R923*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.R928*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	928					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACCCCATCGAAGGACGAAG	0.478000													24	67					0	0	0.00229938	0	0
CPA2	1358	broad.mit.edu	37	7	129910554	129910554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:129910554G>A	ENST00000222481.4	+	4	365	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	104					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CAAAGAGAATGAAGAAATGCT	0.388000													15	40					0	0	0.000566183	0	0
C8B	732	broad.mit.edu	37	1	57411525	57411525	+	Silent	SNP	G	G	A	rs149848224	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57411525G>A	ENST00000543257.1	-	8	1484	c.918C>T	c.(916-918)ctC>ctT	p.L306L	C8B_ENST00000371237.4_Silent_p.L358L|C8B_ENST00000535057.1_Silent_p.L296L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	358	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTCATAACGAGGGTGTATT	0.488000													17	76					0	0	0.000566183	0	0
KCTD8	386617	broad.mit.edu	37	4	44176896	44176896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:44176896G>A	ENST00000360029.3	-	2	1616	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	445						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q445K(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAAAATCCTGAATACACTTT	0.388000										HNSCC(17;0.042)			19	128					0	0	0.00074312	0	0
CSF2	1437	broad.mit.edu	37	5	131410554	131410554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:131410554G>A	ENST00000296871.2	+	3	287	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	85					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	GGGCCTGCGGGGCAGCCTCAC	0.642000													22	47					0	0	0.00229938	0	0
POLE	5426	broad.mit.edu	37	12	133245501	133245501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:133245501G>A	ENST00000320574.5	-	17	1862	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	POLE_ENST00000535270.1_Missense_Mutation_p.L580F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	607					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGGAGGCAAGCTTGCTCTTA	0.552000								DNA polymerases (catalytic subunits)					11	27					0	0	0.00136819	0	0
BMS1	9790	broad.mit.edu	37	10	43316001	43316001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:43316001C>T	ENST00000374518.4	+	17	2878	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	939					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R939*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCAAGTCCCGAGATCCAAT	0.453000													14	28					0	0	0.00244969	0	0
SI	6476	broad.mit.edu	37	3	164777087	164777087	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:164777087C>T	ENST00000264382.3	-	11	1209	c.1146_splice	c.e11-1	p.D383_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	383	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTGTGTATCCTGAAAGTTA	0.348000										HNSCC(35;0.089)			10	46					0	0	0.000673444	0	0
NLRP10	338322	broad.mit.edu	37	11	7982819	7982819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7982819C>T	ENST00000328600.2	-	2	501	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	114							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCCTGCTTCCTGCCATTCC	0.527000													10	77					0	0	0.00136819	0	0
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55872708C>T	ENST00000313503.1	+	1	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.423000										HNSCC(53;0.14)			44	207					0	0	0.0025221	0	0
KALRN	8997	broad.mit.edu	37	3	124390609	124390609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:124390609C>T	ENST00000360013.3	+	48	6930	c.6803C>T	c.(6802-6804)tCt>tTt	p.S2268F	KALRN_ENST00000428018.2_Missense_Mutation_p.S539F|KALRN_ENST00000393496.1_Missense_Mutation_p.S609F|KALRN_ENST00000291478.4_Missense_Mutation_p.S571F|KALRN_ENST00000459915.1_Missense_Mutation_p.S360F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2267					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCTACTCCTCTGTTCCTGCG	0.567000													18	87					0	0	0.00152264	0	0
NWD1	284434	broad.mit.edu	37	19	16918517	16918517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:16918517C>T	ENST00000524140.2	+	18	4275	c.3857C>T	c.(3856-3858)tCc>tTc	p.S1286F	NWD1_ENST00000552788.1_Missense_Mutation_p.S1286F|NWD1_ENST00000339803.6_Missense_Mutation_p.S1151F|NWD1_ENST00000523826.1_Missense_Mutation_p.S1080F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1286F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1244F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1286							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCTGAATTCCAGGCAGGAC	0.597000													6	32					0	0	0.00116845	0	0
GALNT3	2591	broad.mit.edu	37	2	166611537	166611537	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:166611537T>G	ENST00000392701.3	-	8	2204	c.1429A>C	c.(1429-1431)Aaa>Caa	p.K477Q	GALNT3_ENST00000409882.1_Missense_Mutation_p.K215Q	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	477					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGCGGTGTTTTATTTCAAAT	0.328000													5	36					0	0	0.000602214	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015480	8015480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:8015480G>A	ENST00000380149.1	-	6	1213	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ALOXE3_ENST00000318227.3_Missense_Mutation_p.R371C|ALOXE3_ENST00000448843.2_Missense_Mutation_p.R239C			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	239	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GAGCCCTTGCGATCCAACAGC	0.547000													33	121					0	0	0.000953801	0	0
NOTCH2	4853	broad.mit.edu	37	1	120496233	120496233	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:120496233G>A	ENST00000256646.2	-	14	2517	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	766	EGF-like 20; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCATTCTGGCATGGATTCG	0.413000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				122	568					0	0	0.000781405	0	0
NXF5	55998	broad.mit.edu	37	X	101096477	101096477	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:101096477C>T	ENST00000537026.1	-	6	653	c.294G>A	c.(292-294)ttG>ttA	p.L98L	NXF5_ENST00000473265.2_Silent_p.L98L|NXF5_ENST00000361708.2_Silent_p.L98L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	98					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GGCCTGGCTTCAACTTATTCT	0.478000													23	65					0	0	0.00047179	0	0
CCDC181	57821	broad.mit.edu	37	1	169394155	169394155	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:169394155T>C	ENST00000545005.1	-	3	518	c.11A>G	c.(10-12)aAt>aGt	p.N4S	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.N4S|CCDC181_ENST00000367806.3_Missense_Mutation_p.N4S					coiled-coil domain containing 181																		AGTATCTTTATTTTCATTCAT	0.323000													11	48					0	0	0.000978159	0	0
TPTE	7179	broad.mit.edu	37	21	10942740	10942740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:10942740C>T	ENST00000298232.7	-	12	1014	c.647G>A	c.(646-648)gGa>gAa	p.G216E	TPTE_ENST00000342420.5_Missense_Mutation_p.G196E|TPTE_ENST00000361285.4_Missense_Mutation_p.G234E|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	234					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGGTCAAATCCATCCCTTGT	0.318000													25	526					0	0	0.000720815	0	0
IFNB1	3456	broad.mit.edu	37	9	21077589	21077589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21077589C>T	ENST00000380232.2	-	1	354	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	94					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CTAGATGAATCTTGTCTGAAA	0.448000													24	83					0	0	0.00278032	0	0
SPEF2	79925	broad.mit.edu	37	5	35814606	35814606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35814606G>A	ENST00000356031.3	+	37	5574	c.5420G>A	c.(5419-5421)gGa>gAa	p.G1807E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.G604E	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1807					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGTACAAGGAAGTGATGGA	0.299000													17	61					0	0	0.00121646	0	0
SHC3	53358	broad.mit.edu	37	9	91667064	91667064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:91667064C>T	ENST00000375835.4	-	7	1156	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	284	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCACAGCATTCCAAAATGTGA	0.517000													10	24					0	0	0.000673444	0	0
CAPSL	133690	broad.mit.edu	37	5	35910179	35910179	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35910179T>A	ENST00000397367.2	-	4	442		c.e4-2		CAPSL_ENST00000397366.1_Splice_Site|CAPSL_ENST00000514524.1_Splice_Site	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like							cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CATTGGAGGCTACAAAAATAG	0.363000													20	34					0	0	0.00188189	0	0
A2ML1	144568	broad.mit.edu	37	12	9020829	9020829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:9020829G>A	ENST00000299698.7	+	31	4117	c.3937G>A	c.(3937-3939)Gtg>Atg	p.V1313M	A2ML1_ENST00000539547.1_Missense_Mutation_p.V822M	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1157						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTACCAGACGGTGTTGAGATA	0.388000													23	103					0	0	0.000720815	0	0
CCDC80	151887	broad.mit.edu	37	3	112324569	112324569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:112324569C>T	ENST00000206423.3	-	8	3501	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	CCDC80_ENST00000439685.2_Missense_Mutation_p.V850M	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	850										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGTCTTTCACCAAATGGGCT	0.423000													8	43					0	0	0.000157383	0	0
RANBP3L	202151	broad.mit.edu	37	5	36251594	36251594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:36251594G>A	ENST00000296604.3	-	13	1660	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	RANBP3L_ENST00000502994.1_Missense_Mutation_p.A417V	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	392	RanBD1.				intracellular transport			p.A392D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TGTATCTTGGGCACTGGCCTG	0.348000													17	28					0	0	0.000422831	0	0
OSMR	9180	broad.mit.edu	37	5	38886146	38886146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:38886146C>T	ENST00000274276.3	+	7	1247	c.845C>T	c.(844-846)tCt>tTt	p.S282F	OSMR_ENST00000502536.1_Missense_Mutation_p.S282F	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	282					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAAGATTTTCTGGGGAAAAG	0.343000													8	34					0	0	0.000442599	0	0
OR10J1	26476	broad.mit.edu	37	1	159410488	159410488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:159410488G>A	ENST00000423932.3	+	1	977	c.940G>A	c.(940-942)Gct>Act	p.A314T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	314					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTGTGCAGGGCTGTTGGTGG	0.483000													22	70					0	0	0.00047179	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101955	69101955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:69101955G>A	ENST00000332644.5	-	3	315	c.154C>T	c.(154-156)Cat>Tat	p.H52Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	52	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCAGAAATATGAAAATCACCT	0.318000													5	32					0	0	0.00116845	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898334	64898334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:64898334C>T	ENST00000555709.1	+	14	1783	c.1396C>T	c.(1396-1398)Cat>Tat	p.H466Y	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.H522Y|MTHFD1_ENST00000555252.1_Missense_Mutation_p.H446Y|MTHFD1_ENST00000216605.7_Missense_Mutation_p.H522Y	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	466	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCGGATATTTCATGAACTGAC	0.443000													9	53					0	0	0.000442599	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553911	135553911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:135553911C>T	ENST00000372146.4	+	2	1469	c.905C>T	c.(904-906)tCa>tTa	p.S302L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	302					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCCATCTCTTCATGCAACACA	0.468000													17	45					0	0	0.000566183	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524178	24524178	+	Missense_Mutation	SNP	G	G	A	rs146672556	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:24524178G>A	ENST00000376862.3	+	2	1078	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	149					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGTCCTACGATGTGGAGGA	0.547000													18	108					0	0	0.00152264	0	0
THSD4	79875	broad.mit.edu	37	15	72030085	72030085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:72030085G>A	ENST00000355327.3	+	11	1779	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.G189S|THSD4_ENST00000261862.6_Missense_Mutation_p.G549S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	549						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCTTCAATGGCCAGATGGT	0.527000													7	22					0	0	0.000274275	0	0
OR6C65	403282	broad.mit.edu	37	12	55794498	55794498	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55794498G>A	ENST00000379665.2	+	1	285	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCTTCCTCAGGAATTTCTCTT	0.323000													10	32					0	0	0.000442599	0	0
LRRK1	79705	broad.mit.edu	37	15	101606336	101606336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:101606336G>A	ENST00000284395.5	+	33	6085	c.5685G>A	c.(5683-5685)atG>atA	p.M1895I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.M1898I|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1898					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACCCCCATGGACGGGGAGA	0.612000													17	88					0	0	0.000566183	0	0
ACSL5	51703	broad.mit.edu	37	10	114173028	114173028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:114173028C>T	ENST00000393081.1	+	12	1353	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	ACSL5_ENST00000369410.3_Missense_Mutation_p.P131L|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.P349L|ACSL5_ENST00000354273.4_Missense_Mutation_p.P349L|ACSL5_ENST00000356116.1_Missense_Mutation_p.P405L|ACSL5_ENST00000354655.4_Missense_Mutation_p.P349L	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	349					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACATTGTTTCCCGCGGTGCCT	0.507000													17	102					0	0	0.000566183	0	0
BRAF	673	broad.mit.edu	37	7	140494149	140494149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:140494149G>A	ENST00000288602.6	-	8	1159	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	367					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGCACATTGGGAGCTGATGAG	0.393000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				48	79					0	0	0.000781405	0	0
LMBR1	64327	broad.mit.edu	37	7	156480769	156480769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:156480769G>A	ENST00000353442.4	-	16	1578	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	LMBR1_ENST00000540390.1_Intron|LMBR1_ENST00000359422.4_Intron|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.R489*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	448						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGAATTTTCGGACCAGACAC	0.363000													43	75					0	0	0.0025221	0	0
FMN2	56776	broad.mit.edu	37	1	240635710	240635710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:240635710G>A	ENST00000319653.9	+	17	5329	c.5099G>A	c.(5098-5100)gGa>gAa	p.G1700E	AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000545751.1_Missense_Mutation_p.G296E|FMN2_ENST00000543681.1_Missense_Mutation_p.G20E	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1700					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAAGAAAGGAAAATCACTT	0.318000													16	67					0	0	0.000566183	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543062	+	Silent	SNP	A	A	G	rs45469106		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:14543062A>G	ENST00000358970.5	-	1	83	c.84T>C	c.(82-84)ttT>ttC	p.F28F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGC	0.547000													6	63					0	0	0.000157383	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:172241118G>A	ENST00000241261.2	-	1	179	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_ENST00000420541.2_Silent_p.I19I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000													17	62					0	0	0.00121646	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407724	1407724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:1407724C>T	ENST00000381524.3	+	6	602	c.416C>T	c.(415-417)gCg>gTg	p.A139V	CSF2RA_ENST00000381500.1_Missense_Mutation_p.A139V|CSF2RA_ENST00000501036.2_Missense_Mutation_p.A6V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A139V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A139V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A139V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A139V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A139V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A139V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A139V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	139						extracellular region|integral to plasma membrane	cytokine receptor activity	p.A139V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACCTGGGCGAGGGGTCCG	0.458000													8	137					0	0	0.000157383	0	0
RELN	5649	broad.mit.edu	37	7	103206733	103206733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:103206733C>T	ENST00000428762.1	-	33	5033	c.4874G>A	c.(4873-4875)gGa>gAa	p.G1625E	RELN_ENST00000424685.2_Missense_Mutation_p.G1625E|RELN_ENST00000343529.5_Missense_Mutation_p.G1625E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1625					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTTGACCTCCTTGGATTCG	0.363000													13	73					0	0	0.00136819	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072913	15072913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:15072913C>T	ENST00000598504.1	-	8	2195	c.836G>A	c.(835-837)gGg>gAg	p.G279E	SLC1A6_ENST00000600144.1_Missense_Mutation_p.G279E|SLC1A6_ENST00000430939.2_Missense_Mutation_p.G215E|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G279E|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G279E	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	279					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AATGACCAGCCCAAAGGCCAC	0.567000													24	70					0	0	0.000878237	0	0
DNAH7	56171	broad.mit.edu	37	2	196750931	196750931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:196750931C>T	ENST00000312428.6	-	34	5572	c.5472G>A	c.(5470-5472)atG>atA	p.M1824I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1824					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAATCATCCATAAAACAGT	0.368000													6	58					0	0	0.00116845	0	0
TCN1	6947	broad.mit.edu	37	11	59629046	59629046	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:59629046G>A	ENST00000257264.3	-	4	614	c.510C>T	c.(508-510)ttC>ttT	p.F170F	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	170					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCAGGAGTGAAGTGGTTGA	0.468000													17	86					0	0	0.000958276	0	0
MROH8	140699	broad.mit.edu	37	20	35748963	35748963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:35748963G>A	ENST00000400441.3	-	17	2172	c.2173C>T	c.(2173-2175)Ctt>Ttt	p.L725F	MROH8_ENST00000217333.8_Missense_Mutation_p.L554F|MROH8_ENST00000441008.2_Missense_Mutation_p.L711F					maestro heat-like repeat family member 8																		CGGTTAAGAAGAGGGACTAAT	0.428000													11	30					0	0	0.00136819	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722548	129722548	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:129722548C>T	ENST00000281441.3	+	2	259	c.171C>T	c.(169-171)tcC>tcT	p.S57S	TMEM45B_ENST00000524567.1_Silent_p.S57S	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTTTGTTTTCCGTCACTGGTA	0.473000													12	66					0	0	0.000308642	0	0
MYO1F	4542	broad.mit.edu	37	19	8616665	8616665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:8616665C>T	ENST00000338257.8	-	8	997	c.730G>A	c.(730-732)Gtg>Atg	p.V244M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	244	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCCGTCCACCTGGTAGGTG	0.612000													15	57					0	0	0.00244969	0	0
NSUN7	79730	broad.mit.edu	37	4	40778237	40778237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:40778237C>T	ENST00000381782.2	+	7	1492	c.997C>T	c.(997-999)Cct>Tct	p.P333S	NSUN7_ENST00000316607.5_Missense_Mutation_p.P333S	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCTAAGGATCCTGACTTGAA	0.318000													18	95					0	0	0.00152264	0	0
GABRB1	2560	broad.mit.edu	37	4	47427754	47427754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:47427754G>A	ENST00000295454.3	+	9	1436	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	GABRB1_ENST00000538619.1_Missense_Mutation_p.E312K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	382					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E382*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGTGGCTCGGAAGTGCTCAC	0.597000													7	57					0	0	0.000157383	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354961	45354961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:45354961C>T	ENST00000359271.2	+	2	1536	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	429						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGTTTGGGCCAGGTAAGTGG	0.607000													4	28					0	0	0.00024832	0	0
DNMT1	1786	broad.mit.edu	37	19	10265585	10265585	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:10265585A>C	ENST00000340748.4	-	19	1827	c.1592T>G	c.(1591-1593)aTc>aGc	p.I531S	DNMT1_ENST00000359526.4_Missense_Mutation_p.I547S|DNMT1_ENST00000540357.1_Missense_Mutation_p.I531S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	531	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTTACCTCGATCTTGTTGAT	0.488000													13	40					0	0	0.00185496	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:73480030C>T	ENST00000523207.1	+	2	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000													20	100					0	0	0.00121646	0	0
INTS4P2	644619	broad.mit.edu	37	7	65157824	65157824	+	RNA	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:65157824G>A	ENST00000430126.2	+	0	1150																											TGCCTTGAGGGTATGTTGAAA	0.443000													33	109					0	0	0.000692331	0	0
PSMB4	5692	broad.mit.edu	37	1	151372152	151372152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:151372152C>T	ENST00000290541.6	+	1	143	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCCCGATTCCTTCATGGAT	0.607000													20	125					0	0	0.00188189	0	0
BIRC6	57448	broad.mit.edu	37	2	32626358	32626358	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:32626358A>G	ENST00000421745.2	+	7	1296	c.1162A>G	c.(1162-1164)Ata>Gta	p.I388V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	388					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AACTGACAGAATATCTTGCTT	0.463000													40	209					0	0	0.00195071	0	0
PRB1	5542	broad.mit.edu	37	12	11506861	11506861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:11506861C>T	ENST00000500254.2	-	3	213	c.176G>A	c.(175-177)gGa>gAa	p.G59E	PRB1_ENST00000546254.1_Missense_Mutation_p.G59E|PRB1_ENST00000545626.1_Missense_Mutation_p.G59E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	242	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.592000													36	182					0	0	0.00170553	0	0
USH2A	7399	broad.mit.edu	37	1	216465615	216465615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:216465615G>A	ENST00000366943.2	-	10	2128	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	USH2A_ENST00000366942.3_Missense_Mutation_p.S581F|USH2A_ENST00000307340.3_Missense_Mutation_p.S581F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	581	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAGCTTTTGGAATGGCTGTT	0.438000										HNSCC(13;0.011)			14	58					0	0	0.00244969	0	0
SPTLC2	9517	broad.mit.edu	37	14	78063656	78063656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:78063656G>A	ENST00000216484.2	-	2	393	c.200C>T	c.(199-201)cCa>cTa	p.P67L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	67						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AACCAGCATTGGTGTTTCTTC	0.383000													6	39					0	0	0.00198382	0	0
COL4A5	1287	broad.mit.edu	37	X	107829888	107829888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:107829888G>A	ENST00000328300.6	+	19	1320	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G359E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	359	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAGAAAAAGGAAACATTGGG	0.423000									Alport syndrome with Diffuse Leiomyomatosis				23	91					0	0	0.00106085	0	0
OR4M2	390538	broad.mit.edu	37	15	22369027	22369027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:22369027G>A	ENST00000332663.2	+	1	550	c.452G>A	c.(451-453)gGg>gAg	p.G151E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTGGAGGGGGGGCTTCATT	0.498000													31	118					0	0	0.00209593	0	0
SSX3	10214	broad.mit.edu	37	X	48208991	48208991	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:48208991G>A	ENST00000376893.3	-	7	591	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						gcagtggtctggaaccgaacc	0.408000													12	66					0	0	0.00244969	0	0
RGPD4	285190	broad.mit.edu	37	2	108499184	108499184	+	Silent	SNP	A	A	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:108499184A>C	ENST00000408999.3	+	22	5198	c.5121A>C	c.(5119-5121)gcA>gcC	p.A1707A	RGPD4_ENST00000354986.4_Silent_p.A1707A	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1707	GRIP.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGAGTCTGCAGCTAACGTGG	0.403000													18	126					0	0	0.00152264	0	0
MMP19	4327	broad.mit.edu	37	12	56233450	56233450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:56233450C>T	ENST00000322569.4	-	5	687	c.596G>A	c.(595-597)gGg>gAg	p.G199E	MMP19_ENST00000548629.1_Missense_Mutation_p.G176E|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	199					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						ACGGTAGGTCCCCTCAGTCCA	0.612000													5	33					0	0	0.000602214	0	0
RRP9	9136	broad.mit.edu	37	3	51971266	51971266	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:51971266G>A	ENST00000232888.6	-	6	532	c.459C>T	c.(457-459)gtC>gtT	p.V153V		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	153					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CGGGGGTGACGACCAAACATG	0.592000													13	42					0	0	0.00244969	0	0
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000494292.1_Silent_p.T261T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388000													24	148					0	0	0.000878237	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993591	140993591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:140993591C>T	ENST00000285879.4	+	4	687	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	134							protein binding	p.S134F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCGAGTTCCTTCTTCTCC	0.502000										HNSCC(15;0.026)			16	77					0	0	0.00074312	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:176668661G>A	ENST00000367662.3	+	8	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1058					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTCTCCGCGATCCCCCATT	0.552000													32	118					0	0	0.00058488	0	0
ABCG8	64241	broad.mit.edu	37	2	44079738	44079738	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:44079738G>A	ENST00000272286.2	+	6	785	c.694_splice	c.e6-1	p.G232_splice		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	232	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTGGAAAGGAATCCTTATT	0.622000													42	217					0	0	0.0025221	0	0
REV3L	5980	broad.mit.edu	37	6	111695369	111695369	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:111695369T>C	ENST00000435970.1	-	15	4771	c.3955A>G	c.(3955-3957)Atc>Gtc	p.I1319V	REV3L_ENST00000368802.3_Missense_Mutation_p.I1397V|REV3L_ENST00000358835.3_Missense_Mutation_p.I1397V|REV3L_ENST00000368805.1_Missense_Mutation_p.I1397V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1397					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACTTTCCGATTGATGACAAA	0.353000								DNA polymerases (catalytic subunits)					27	75					0	0	0.000720815	0	0
SNX19	399979	broad.mit.edu	37	11	130750627	130750627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:130750627G>A	ENST00000265909.4	-	9	3217	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.S326F|SNX19_ENST00000534726.1_Missense_Mutation_p.S123F|SNX19_ENST00000426933.2_Missense_Mutation_p.S51F|SNX19_ENST00000530356.1_Missense_Mutation_p.S263F|SNX19_ENST00000528555.1_Missense_Mutation_p.S263F|SNX19_ENST00000545537.1_Missense_Mutation_p.S123F	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	883					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGGCCAGATGGACTCCTGAAG	0.532000													24	77					0	0	0.000586117	0	0
VRTN	55237	broad.mit.edu	37	14	74823912	74823912	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74823912C>T	ENST00000256362.4	+	2	667	c.426C>T	c.(424-426)tcC>tcT	p.S142S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	142					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGAGGAGTCCCCTGAGATGA	0.597000													6	32					0	0	0.00116845	0	0
TKTL2	84076	broad.mit.edu	37	4	164393595	164393595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:164393595G>A	ENST00000280605.3	-	1	1452	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	431						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCCATCTGGGAGACTCCATC	0.473000													19	51					0	0	0.00121646	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	87					0	0	0.000602214	0	0
TF	7018	broad.mit.edu	37	3	133475818	133475818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:133475818G>A	ENST00000402696.3	+	7	1320	c.835G>A	c.(835-837)Gag>Aag	p.E279K	TF_ENST00000264998.3_Missense_Mutation_p.E152K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	279	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGGCGGCAAGGAGGACTTGAT	0.587000													8	57					0	0	0.000274275	0	0
ANK3	288	broad.mit.edu	37	10	61832325	61832325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61832325C>T	ENST00000280772.1	-	37	8505	c.8314G>A	c.(8314-8316)Gac>Aac	p.D2772N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2772					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGGAGGTCTATGGCCTTC	0.398000													14	73					0	0	0.00244969	0	0
GPR112	139378	broad.mit.edu	37	X	135427218	135427218	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:135427218G>A	ENST00000394143.1	+	6	1644	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V	GPR112_ENST00000287534.4_Silent_p.V388V|GPR112_ENST00000412101.1_Silent_p.V246V|GPR112_ENST00000394141.1_Silent_p.V246V|GPR112_ENST00000370652.1_Silent_p.V451V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTTTACAGTGGAAAAGACTT	0.478000													19	49					0	0	0.000958276	0	0
PRKD1	5587	broad.mit.edu	37	14	30068894	30068894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:30068894G>A	ENST00000331968.5	-	14	2264	c.2035C>T	c.(2035-2037)Cca>Tca	p.P679S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P687S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	679	Protein kinase.		P -> L (in dbSNP:rs34588699).		cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGTGCTCTGGCAACCTGCCC	0.353000													15	92					0	0	0.000566183	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034925	107034925	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:107034925C>T	ENST00000390626.2	-	0	213																											CCAGCCGATCCAGTAGCTGGT	0.577000													5	9					0	0	0.000602214	0	0
SPNS3	201305	broad.mit.edu	37	17	4391139	4391139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4391139G>A	ENST00000355530.2	+	12	1769	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	SPNS3_ENST00000333476.2_Missense_Mutation_p.E370K	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	497					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CAACGACCTGGAGAGACAAGG	0.617000													9	99					0	0	0.000274275	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474423	99474423	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:99474423G>A	ENST00000316368.2	-	1	257	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCATCTTCAGGATGATTGTGG	0.478000													21	71					0	0	0.000720815	0	0
MFN2	9927	broad.mit.edu	37	1	12057476	12057476	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12057476C>T	ENST00000235329.5	+	6	919	c.597C>T	c.(595-597)gaC>gaT	p.D199D	MFN2_ENST00000444836.1_Silent_p.D199D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	199					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTTTGATGGACAGGTAAGAGG	0.567000													15	59					0	0	0.000422831	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236203	140236203	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:140236203C>T	ENST00000307360.5	+	1	570	c.570C>T	c.(568-570)ttC>ttT	p.F190F	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.F190F|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACAAATTCCCAGTGCTTG	0.403000													24	55					0	0	0.000586117	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407007	47407007	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:47407007C>T	ENST00000310638.4	-	1	130	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.K33K|CYP4A11_ENST00000371905.1_Silent_p.K33K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	33					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGAACTGCCTTGATCAGCA	0.602000													17	75					0	0	0.000422831	0	0
OR6C74	254783	broad.mit.edu	37	12	55641546	55641546	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55641546C>T	ENST00000343870.4	+	1	565	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCCGCCACTCCTGATGGGTCT	0.473000													14	65					0	0	0.00244969	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:123900446G>A	ENST00000431524.1	+	1	150	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562000													39	109					0	0	0.00148497	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434231	22434231	+	RNA	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:22434231C>T	ENST00000390442.3	+	0	340																											AAGTATATCTCCTTGTTCATC	0.488000													29	124					0	0	0.00178596	0	0
OR4K17	390436	broad.mit.edu	37	14	20586306	20586306	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:20586306C>T	ENST00000315543.4	+	1	741	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I247I(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGCTTATCTCCTACAGTC	0.418000													10	102					0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82584690	82584690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:82584690G>A	ENST00000423517.2	-	5	5916	c.5579C>T	c.(5578-5580)tCa>tTa	p.S1860L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1860L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1791					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGCTAGGTGAATATTCAGA	0.398000													67	105					0	0	0.000781405	0	0
OR11G2	390439	broad.mit.edu	37	14	20665950	20665950	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:20665950C>T	ENST00000357366.3	+	1	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AATGCTTTTTCCTGGCAGTTA	0.473000													13	33					0	0	0.00136819	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548191	99548191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:99548191G>A	ENST00000550693.2	-	1	333	c.80C>T	c.(79-81)cCt>cTt	p.P27L	ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P27L|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P27L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P27L|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P27L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P27L	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGGATGAAGAGGGAAGCGTTT	0.537000													9	43					0	0	0.000673444	0	0
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	G	A	rs147260851	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:25042969G>A	ENST00000216336.2	-	5	678	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557000													23	121					0	0	0.000720815	0	0
IMPG2	50939	broad.mit.edu	37	3	100961706	100961706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:100961706C>T	ENST00000193391.7	-	14	3035	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	950	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTGAGGATTTCTAAGTTCTGG	0.413000													4	52					0	0	0.000602214	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851790	14851790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:14851790G>A	ENST00000358984.4	+	36	3670	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1249										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATTGAAGGAAAAACAAGA	0.383000													6	5					0	0	0.00116845	0	0
POLR3B	55703	broad.mit.edu	37	12	106890667	106890667	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:106890667G>A	ENST00000228347.4	+	25	3177	c.2955G>A	c.(2953-2955)ggG>ggA	p.G985G	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.G927G	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	985					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACTACTTGGGGAAAGACTATG	0.463000													6	44					0	0	0.00198382	0	0
RGS9	8787	broad.mit.edu	37	17	63173900	63173900	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:63173900G>A	ENST00000449996.3	+	9	705	c.633G>A	c.(631-633)ccG>ccA	p.P211P	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.P211P|RGS9_ENST00000262406.9_Silent_p.P211P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	211					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGACCAATCCGAATGAAGTCA	0.488000													11	79					0	0	0.000978159	0	0
UTP20	27340	broad.mit.edu	37	12	101699779	101699779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:101699779C>T	ENST00000261637.4	+	16	2042	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	623					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGGCCACTTTCCCAGGAGGCT	0.448000													21	92					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179575439C>T	ENST00000589042.1	-	98	28609	c.28385G>A	c.(28384-28386)gGa>gAa	p.G9462E	TTN_ENST00000591111.1_Missense_Mutation_p.G9145E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8218E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9145	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAATCTCCTTTGTCTAC	0.438000													29	115					0	0	0.0024448	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708125	94708125	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:94708125G>A	ENST00000304338.3	+	10	1131	c.976_splice	c.e10-1	p.G326_splice		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	326						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTGTTTTAGGAATTTTCACT	0.274000													16	45					0	0	0.00121646	0	0
MUSK	4593	broad.mit.edu	37	9	113550028	113550028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:113550028G>A	ENST00000416899.2	+	12	1939	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	MUSK_ENST00000374438.1_Missense_Mutation_p.E129K|MUSK_ENST00000189978.5_Missense_Mutation_p.E613K|MUSK_ENST00000374448.4_Missense_Mutation_p.E613K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	613	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GATGCTCAAAGAAGAAGCCTC	0.433000													5	27					0	0	0.000602214	0	0
LMTK3	114783	broad.mit.edu	37	19	49001505	49001505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49001505C>T	ENST00000600059.1	-	11	3048	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E970K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCGCCTTCTCCTCGATGCCT	0.637000													8	27					0	0	0.000274275	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:73056945C>T	ENST00000261180.4	+	19	3141	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000													11	24					0	0	0.00244969	0	0
GLO1	2739	broad.mit.edu	37	6	38652268	38652268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:38652268G>A	ENST00000373365.4	-	3	276	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	64					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTCATAATGGGAAAATCACAT	0.338000													13	45					0	0	0.00244969	0	0
GPR50	9248	broad.mit.edu	37	X	150348517	150348517	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:150348517C>T	ENST00000218316.3	+	2	531	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	154					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTGGATCATGACCGTCC	0.517000													17	57					0	0	0.00074312	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111147	7111147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7111147C>T	ENST00000306904.5	+	1	983	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	266	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACGGAGGTCGCGACCGTGA	0.672000													6	28					0	0	0.00198382	0	0
HN1L	90861	broad.mit.edu	37	16	1735481	1735481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:1735481G>A	ENST00000248098.3	+	2	143	c.86G>A	c.(85-87)gGa>gAa	p.G29E	HN1L_ENST00000569765.1_Missense_Mutation_p.G57E|HN1L_ENST00000382711.5_Missense_Mutation_p.G13E|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000562684.1_Missense_Mutation_p.G57E|HN1L_ENST00000382710.4_Missense_Mutation_p.G17E|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000561516.1_Missense_Mutation_p.G29E	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	29						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						AATCTTTTTGGAAGTCCAGAA	0.468000													24	42					0	0	0.00278032	0	0
ZNF232	7775	broad.mit.edu	37	17	5012250	5012250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:5012250G>A	ENST00000250076.3	-	4	1250	c.596C>T	c.(595-597)cCt>cTt	p.P199L	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.P199L|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	172					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGTCTCCTTAGGCTGGAGCTG	0.572000													21	112					0	0	0.00229938	0	0
AARS2	57505	broad.mit.edu	37	6	44274093	44274093	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:44274093G>A	ENST00000244571.4	-	9	1226	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	408					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGGAGGCCAGGAAGGCTGCCT	0.587000													22	92					0	0	0.00152264	0	0
HBG2	3048	broad.mit.edu	37	11	5275627	5275627	+	Silent	SNP	A	A	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5275627A>T	ENST00000380259.2	-	7	1450	c.210T>A	c.(208-210)acT>acA	p.T70T	HBG2_ENST00000380252.1_Silent_p.T60T|HBG2_ENST00000336906.4_Silent_p.T70T					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAAGGAAGTCAGCACCT	0.532000													18	185					0	0	0.00121646	0	0
QPCTL	54814	broad.mit.edu	37	19	46201889	46201889	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:46201889T>G	ENST00000012049.5	+	4	939	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A	QPCTL_ENST00000366382.4_Missense_Mutation_p.S146A	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	240					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTTTACGGTTCCCGGCACCT	0.632000													8	20					0	0	0.000274275	0	0
PGK2	5232	broad.mit.edu	37	6	49754065	49754065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:49754065C>T	ENST00000304801.3	-	1	988	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	279					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAAAGTAATCCTTACACCATT	0.443000													21	122					0	0	0.00188189	0	0
SPEF2	79925	broad.mit.edu	37	5	35628639	35628639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35628639G>A	ENST00000440995.2	+	2	136	c.136G>A	c.(136-138)Gat>Aat	p.D46N	SPEF2_ENST00000282469.6_Missense_Mutation_p.D46N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D46N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D46N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	46	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTCAGGATGATTTTTCAGA	0.358000													21	53					0	0	0.00188189	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987047	89987047	+	RNA	SNP	G	G	A	rs111423880		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:89987047G>A	ENST00000491977.1	+	0	358																											GGATGTTGGGGTTTATTACTG	0.532000													7	72					0	0	0.000442599	0	0
PRODH2	58510	broad.mit.edu	37	19	36303159	36303159	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:36303159C>T	ENST00000301175.3	-	4	632	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	205					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAGGTTCCCCTCATACCACG	0.677000													8	45					0	0	0.000442599	0	0
BRWD1	54014	broad.mit.edu	37	21	40590094	40590094	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:40590094C>G	ENST00000342449.3	-	31	3721	c.3643G>C	c.(3643-3645)Gtt>Ctt	p.V1215L	BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000333229.2_Missense_Mutation_p.V1215L|BRWD1_ENST00000380800.3_Missense_Mutation_p.V1215L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1215	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATCGATTAACAAGTCTCATT	0.368000													6	49					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179441775	179441775	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179441775G>C	ENST00000589042.1	-	324	69511	c.69287C>G	c.(69286-69288)tCt>tGt	p.S23096C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21455C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S14031C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14156C|TTN_ENST00000342992.6_Missense_Mutation_p.S20528C|TTN_ENST00000342175.6_Missense_Mutation_p.S14223C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21455	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCTGCAAGACTGAATATC	0.453000													32	124					0	0	0.00209593	0	0
INTS1	26173	broad.mit.edu	37	7	1527064	1527064	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:1527064G>A	ENST00000389470.4	-	21	2966	c.2967C>T	c.(2965-2967)ccC>ccT	p.P989P	INTS1_ENST00000404767.3_Silent_p.P846P			Q8N201	INT1_HUMAN	integrator complex subunit 1	846					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGATGTGAGGGGGAGGCCTCC	0.662000													8	45					0	0	0.00244969	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956064	18956064	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:18956064T>G	ENST00000302797.3	-	1	492	c.268A>C	c.(268-270)Atc>Ctc	p.I90L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	90					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTATGGGGGATACTGATGAAG	0.522000													31	257					0	0	0.00283554	0	0
CCDC108	255101	broad.mit.edu	37	2	219896344	219896344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219896344C>T	ENST00000341552.5	-	7	765	c.682G>A	c.(682-684)Gag>Aag	p.E228K	CCDC108_ENST00000410037.1_Missense_Mutation_p.E163K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E228K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E228K|CCDC108_ENST00000409865.3_Missense_Mutation_p.E217K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	228						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATCCCCTCCGCTTTCTCA	0.627000													17	79					0	0	0.00121646	0	0
LRRK1	79705	broad.mit.edu	37	15	101606337	101606337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:101606337G>A	ENST00000284395.5	+	33	6086	c.5686G>A	c.(5686-5688)Gac>Aac	p.D1896N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.D1899N|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1899					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACCCCCATGGACGGGGAGAC	0.607000													17	89					0	0	0.000566183	0	0
EFCAB11	90141	broad.mit.edu	37	14	90397973	90397973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:90397973G>A	ENST00000316738.7	-	5	350	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EFCAB11_ENST00000556609.1_Missense_Mutation_p.R60C|EFCAB11_ENST00000556005.1_Missense_Mutation_p.R84C|EFCAB11_ENST00000550103.2_5'UTR|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000267544.9_Missense_Mutation_p.R45C|EFCAB11_ENST00000538485.2_Missense_Mutation_p.R108C|EFCAB11_ENST00000555872.1_Missense_Mutation_p.R84C	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	108	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)	2						AAAAATCCACGATCTATTTGA	0.313000													16	65					0	0	0.000422831	0	0
FLG	2312	broad.mit.edu	37	1	152279804	152279804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:152279804C>T	ENST00000368799.1	-	3	7593	c.7558G>A	c.(7558-7560)Gat>Aat	p.D2520N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2520	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCATCGTTACGAGTT	0.587000									Ichthyosis				51	251					0	0	0.000781405	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365330	30365330	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:30365330G>A	ENST00000305596.3	-	4	442	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CD2BP2_ENST00000569466.1_Silent_p.P89P	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	89					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GCAGGTTAAAGGGTGTGATCC	0.572000													14	92					0	0	0.000566183	0	0
COL6A2	1292	broad.mit.edu	37	21	47545201	47545201	+	Missense_Mutation	SNP	G	G	A	rs149731632		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:47545201G>A	ENST00000300527.4	+	24	1896	c.1792G>A	c.(1792-1794)Gtg>Atg	p.V598M	COL6A2_ENST00000397763.1_Missense_Mutation_p.V598M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V598M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598M|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	598	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATGACCTACGTGAGGGAGAC	0.687000													14	129					0	0	0.000308642	0	0
KRT75	9119	broad.mit.edu	37	12	52825846	52825846	+	Missense_Mutation	SNP	C	C	T	rs142963541	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:52825846C>T	ENST00000252245.5	-	3	938	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	240	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATTTCATCTTCGTACCTATAA	0.448000													8	39					0	0	0.000274275	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:164733000C>T	ENST00000264382.3	-	33	3972	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1304	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)			5	41					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179603011	179603011	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179603011G>A	ENST00000589042.1	-	49	14393	c.14169C>T	c.(14167-14169)atC>atT	p.I4723I	TTN_ENST00000591111.1_Silent_p.I4406I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I4360I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.I4485I|TTN_ENST00000342992.6_Silent_p.I3479I|TTN_ENST00000342175.6_Silent_p.I4552I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4406	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCACTTTGGATCTCACAGG	0.478000													5	23					0	0	0.00198382	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480239	96480239	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:96480239G>A	ENST00000285979.6	+	6	1105	c.906G>A	c.(904-906)acG>acA	p.T302T	CYP2C18_ENST00000339022.5_Silent_p.T243T|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGAGACAACGAGCACCACTC	0.423000													30	53					0	0	0.00209593	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834136	61834136	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:61834136G>A	ENST00000370339.3	-	4	1497	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	YTHDF1_ENST00000370333.4_Silent_p.L336L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	386										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCGCTTTTCAGATTCCACTCA	0.517000													21	101					0	0	0.00278032	0	0
ARPP21	10777	broad.mit.edu	37	3	35731618	35731618	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:35731618C>T	ENST00000187397.4	+	8	987	c.531C>T	c.(529-531)ttC>ttT	p.F177F	ARPP21_ENST00000417925.1_Silent_p.F177F|ARPP21_ENST00000337271.5_Silent_p.F177F|ARPP21_ENST00000444190.1_Silent_p.F177F|ARPP21_ENST00000458225.1_Silent_p.F177F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	177	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTATTGATTTCATTGCTGACA	0.318000													5	39					0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38951143	38951143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:38951143G>A	ENST00000355481.4	+	20	2620	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R830Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R830Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGTATCGACGGGAGGGGCCC	0.637000													24	108					0	0	0.000878237	0	0
UGT2B10	7365	broad.mit.edu	37	4	69687989	69687989	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:69687989G>A	ENST00000265403.7	+	3	895	c.867_splice	c.e3-1	p.E290_splice	UGT2B10_ENST00000458688.2_Splice_Site_p.E206_splice	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	290					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTCCCACCGGAAATGGAGGA	0.393000													12	90					0	0	0.00244969	0	0
SORBS3	10174	broad.mit.edu	37	8	22428628	22428628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:22428628C>T	ENST00000240123.7	+	18	2020	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	SORBS3_ENST00000428103.1_Missense_Mutation_p.P204L	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	546					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCCAGCTCCCCCTCAGCCCTG	0.721000													7	27					0	0	0.00198382	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566006	18566006	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:18566006G>A	ENST00000545289.1	-	5	1063	c.813C>T	c.(811-813)ccC>ccT	p.P271P		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TGCAGGTATAGGGTTTCTCTC	0.378000													14	38					0	0	0.00152264	0	0
OR9G4	283189	broad.mit.edu	37	11	56510428	56510428	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56510428T>G	ENST00000302957.3	-	1	859	c.860A>C	c.(859-861)aAa>aCa	p.K287T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGCTACTTTGTCCCTCTC	0.463000													15	73					0	0	0.000422831	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29496318	29496318	+	Silent	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:29496318A>G	ENST00000283351.4	-	4	869	c.534T>C	c.(532-534)gaT>gaC	p.D178D	TRAPPC8_ENST00000582513.1_Silent_p.D178D|TRAPPC8_ENST00000582539.1_Silent_p.D124D	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	178					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTAGGAATAATCACTGTTGT	0.368000													5	32					0	0	0.000602214	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43922292	43922292	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:43922292A>G	ENST00000282406.4	+	6	541	c.431A>G	c.(430-432)gAg>gGg	p.E144G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	144						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGAATTGGAGAATCAGAAT	0.259000													24	181					0	0	0.000586117	0	0
TLR2	7097	broad.mit.edu	37	4	154625276	154625276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:154625276G>A	ENST00000260010.6	+	1	2625	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	406					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAAAAAACCGGAGAGACTTTG	0.368000													12	43					0	0	0.00185496	0	0
ZNF831	128611	broad.mit.edu	37	20	57769744	57769744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:57769744C>T	ENST00000371030.2	+	1	3670	c.3670C>T	c.(3670-3672)Cct>Tct	p.P1224S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1224						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCAATGGCCCTCCTGGGAG	0.637000													5	17					0	0	0.000602214	0	0
LTBP2	4053	broad.mit.edu	37	14	74989552	74989552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74989552C>T	ENST00000261978.4	-	16	2986	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G867E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	867	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACATCTGTATCCATCGGGGAG	0.597000													6	26					0	0	0.000157383	0	0
BRAF	673	broad.mit.edu	37	7	140453145	140453145	+	Missense_Mutation	SNP	A	A	T	rs121913368		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:140453145A>T	ENST00000288602.6	-	15	1850	c.1790T>A	c.(1789-1791)cTa>cAa	p.L597Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	597	Protein kinase.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(14)|p.L597S(9)|p.L597Q(8)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACTGTAGCTAGACCAAAATC	0.383000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	56					0	0	0.00128727	0	0
RALGDS	5900	broad.mit.edu	37	9	136030674	136030674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:136030674G>A	ENST00000542690.1	-	6	567	c.287C>T	c.(286-288)aCc>aTc	p.T96I	GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372040.3_Missense_Mutation_p.P84S|GBGT1_ENST00000540636.1_Missense_Mutation_p.P67S|GBGT1_ENST00000372038.3_Missense_Mutation_p.T96I|GBGT1_ENST00000372043.3_Missense_Mutation_p.P84S			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCCAACCAGGGTGTGAGTGTC	0.617000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								4	15					0	0	0.00024832	0	0
LIME1	54923	broad.mit.edu	37	20	62370076	62370076	+	Silent	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:62370076C>T	ENST00000309546.3	+	6	798	c.711C>T	c.(709-711)acC>acT	p.T237T	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTACCAGACCCTCCCGCTCA	0.677000													8	19					0	0	0.000274275	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884803	228884803	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:228884803T>A	ENST00000392056.3	-	7	813	c.767A>T	c.(766-768)gAa>gTa	p.E256V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E256V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	256						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAATTCCATTCCACCTGGGT	0.383000													38	156					0	0	0.000953801	0	0
CHCHD10	400916	broad.mit.edu	37	22	24109663	24109663	+	Silent	SNP	T	T	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:24109663T>A	ENST00000484558.2	-	2	727	c.159A>T	c.(157-159)gcA>gcT	p.A53A	CHCHD10_ENST00000401675.3_Silent_p.A53A|CHCHD10_ENST00000520222.1_Intron			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	53						mitochondrion				large_intestine(2)|lung(1)	3						CGGCTACCCCTGCGGCCGTGG	0.766000													4	7					0	0	0.000602214	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399643	47399643	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:47399643G>A	ENST00000310638.4	-	9	1228	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Silent_p.F400F|CYP4A11_ENST00000371905.1_Silent_p.F399F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	399					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCCATCAGGGAAGGTGACGG	0.577000													10	45					0	0	0.000978159	0	0
OR51L1	119682	broad.mit.edu	37	11	5020696	5020696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5020696C>T	ENST00000321543.1	+	1	484	c.484C>T	c.(484-486)Cct>Tct	p.P162S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCCCACACCTTTGCTACT	0.493000													24	126					0	0	0.00229938	0	0
OR4C46	119749	broad.mit.edu	37	11	51516157	51516157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:51516157G>A	ENST00000328188.1	+	1	876	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M292I(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCCAGATGAAAAATGCCA	0.343000													4	20					0	0	0.00116845	0	0
FPR1	2357	broad.mit.edu	37	19	52249600	52249600	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:52249600G>A	ENST00000595042.1	-	3	789	c.648C>T	c.(646-648)atC>atT	p.I216I	FPR1_ENST00000304748.4_Silent_p.I216I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	216					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACAGCAACGATGGACATGG	0.527000													21	66					0	0	0.00188189	0	0
CXorf36	79742	broad.mit.edu	37	X	45013381	45013381	+	Silent	SNP	G	G	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:45013381G>A	ENST00000398000.2	-	4	809	c.735C>T	c.(733-735)ctC>ctT	p.L245L	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	245						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TGGTGCTGACGAGGAATCTGC	0.582000													8	20					0	0	0.000442599	0	0
MROH2B	133558	broad.mit.edu	37	5	40998744	40998744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:40998744C>T	ENST00000399564.4	-	41	5071	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E1096K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTAGTAACTCCACATATTGG	0.378000													3	13					0	0	6.4e-05	0	0
LOC101928979	101928979	broad.mit.edu	37	1	145378949	145378950	+	RNA	INS	-	-	G	rs138005187	by1000genomes	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:145378949_145378950insG	ENST00000419817.1	-	0	307																											ATGAAACGCGCCATTAGTACTG	0.460													4	2	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	213117	213117	+	RNA	DEL	T	T	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:213117delT	ENST00000356347.3	+	0	172					NR_027481.1																						TGATCACCTGTTTGGAGCAAA	0.423													2	4	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38957859	38957861	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:38957859_38957861delAAC	ENST00000359357.3	+	86	12728_12730	c.12474_12476delAAC	c.(12472-12477)aac>aa	p.KT4158del	DNAH8_ENST00000441566.1_In_Frame_Del_p.KT4122del					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTATGCAAAACCTTAGACCAG	0.404													19	137	---	---	---	---					
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401													2	4	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													7	52	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)del	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													2	4	---	---	---	---					
ARL4D	379	broad.mit.edu	37	17	41477428	41477429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:41477428_41477429insA	ENST00000320033.4	+	2	535_536	c.328_329insA	c.(328-330)ggafs	p.G110fs		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	110					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAGCGGCTGGAGGAAGCCAAG	0.663													7	51	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:43052773_43052775delGCT	ENST00000316099.3	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gag>ga	p.EL336del	HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del|HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	336					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													7	232	---	---	---	---